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Items: 1 to 20 of 1020

1.

rs1489809300 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    8:103885775 (GRCh38)
    8:104898003 (GRCh37)
    Canonical SPDI:
    NC_000008.11:103885774:A:T
    Gene:
    RIMS2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000008.11:g.103885775A>T, NC_000008.10:g.104898003A>T, NG_053027.1:g.390750A>T, NM_014677.5:c.600A>T, NM_014677.4:c.600A>T, NM_001100117.3:c.1176A>T, NM_001100117.2:c.1176A>T, NM_001348484.3:c.1308A>T, NM_001348484.2:c.1308A>T, NM_001348484.1:c.1308A>T, NM_001348489.2:c.1176A>T, NM_001348489.1:c.1176A>T, NM_001348490.2:c.1188A>T, NM_001348490.1:c.1188A>T, NR_145710.2:n.1585A>T, NR_145710.1:n.1447A>T, NM_001348491.2:c.1296A>T, NM_001348491.1:c.1296A>T, NM_001348486.2:c.1188A>T, NM_001348486.1:c.1188A>T, NM_001348494.2:c.1176A>T, NM_001348494.1:c.1176A>T, NM_001348488.2:c.1308A>T, NM_001348488.1:c.1308A>T, NM_001348509.2:c.600A>T, NM_001348509.1:c.600A>T, NM_001348487.2:c.1188A>T, NM_001348487.1:c.1188A>T, NM_001348495.2:c.1218A>T, NM_001348495.1:c.1218A>T, NM_001348492.2:c.1188A>T, NM_001348492.1:c.1188A>T, NM_001348496.2:c.1188A>T, NM_001348496.1:c.1188A>T, NM_001348493.2:c.1176A>T, NM_001348493.1:c.1176A>T, NM_001348497.2:c.1176A>T, NM_001348497.1:c.1176A>T, NM_001348503.2:c.600A>T, NM_001348503.1:c.600A>T, NM_001348498.2:c.600A>T, NM_001348498.1:c.600A>T, NM_001348501.2:c.600A>T, NM_001348501.1:c.600A>T, NM_001348485.2:c.1176A>T, NM_001348485.1:c.1176A>T, NM_001348505.2:c.600A>T, NM_001348505.1:c.600A>T, NM_001282881.2:c.600A>T, NM_001282881.1:c.600A>T, NM_001348499.2:c.600A>T, NM_001348499.1:c.600A>T, NM_001348507.2:c.600A>T, NM_001348507.1:c.600A>T, NM_001348508.2:c.600A>T, NM_001348508.1:c.600A>T, NM_001348506.2:c.600A>T, NM_001348506.1:c.600A>T, NR_145711.2:n.888A>T, NR_145711.1:n.920A>T, NM_001348504.2:c.600A>T, NM_001348504.1:c.600A>T, NM_001348500.2:c.600A>T, NM_001348500.1:c.600A>T, NM_001348502.2:c.600A>T, NM_001348502.1:c.600A>T, NM_001395654.1:c.1308A>T, NM_001395652.1:c.1188A>T, NM_001395653.1:c.1308A>T, XM_011517395.4:c.1350A>T, XM_011517395.3:c.1350A>T, XM_011517395.2:c.1350A>T, XM_011517395.1:c.1350A>T, XM_005251106.4:c.1176A>T, XM_005251106.3:c.1176A>T, XM_005251106.2:c.1176A>T, XM_005251106.1:c.1176A>T, XM_005251107.4:c.1176A>T, XM_005251107.3:c.1176A>T, XM_005251107.2:c.1176A>T, XM_005251107.1:c.1176A>T, XM_017014006.3:c.1350A>T, XM_017014006.2:c.1350A>T, XM_017014006.1:c.1350A>T, XM_017014008.3:c.1350A>T, XM_017014008.2:c.1350A>T, XM_017014008.1:c.1350A>T, XM_017014009.3:c.1350A>T, XM_017014009.2:c.1350A>T, XM_017014009.1:c.1350A>T, XM_017014010.3:c.1350A>T, XM_017014010.2:c.1350A>T, XM_017014010.1:c.1350A>T, XM_017014011.3:c.1350A>T, XM_017014011.2:c.1350A>T, XM_017014011.1:c.1350A>T, XM_017014012.3:c.1350A>T, XM_017014012.2:c.1350A>T, XM_017014012.1:c.1350A>T, XM_017014015.3:c.1350A>T, XM_017014015.2:c.1350A>T, XM_017014015.1:c.1350A>T, XM_017014016.3:c.1350A>T, XM_017014016.2:c.1350A>T, XM_017014016.1:c.1350A>T, XM_017014014.2:c.1176A>T, XM_017014014.1:c.1176A>T, XM_017014022.2:c.600A>T, XM_017014022.1:c.600A>T, XM_017014036.2:c.600A>T, XM_017014036.1:c.600A>T, XM_047422468.1:c.1350A>T, XM_047422469.1:c.1308A>T, XM_047422470.1:c.1218A>T, XM_047422471.1:c.1218A>T, XM_047422472.1:c.1218A>T, XM_047422473.1:c.1350A>T, XM_047422474.1:c.1176A>T, XM_047422475.1:c.1218A>T, XM_047422476.1:c.1218A>T, XM_047422477.1:c.1218A>T, XM_047422478.1:c.1176A>T, XM_047422479.1:c.1218A>T, XM_047422480.1:c.1218A>T, XM_047422481.1:c.1218A>T, XM_047422482.1:c.1176A>T, XM_047422483.1:c.1176A>T

    2.

    rs1486894407 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      8:103912087 (GRCh38)
      8:104924315 (GRCh37)
      Canonical SPDI:
      NC_000008.11:103912086:A:G
      Gene:
      RIMS2 (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000008.11:g.103912087A>G, NC_000008.10:g.104924315A>G, NG_053027.1:g.417062A>G, NM_014677.5:c.1151A>G, NM_014677.4:c.1151A>G, NM_001100117.3:c.1727A>G, NM_001100117.2:c.1727A>G, NM_001348484.3:c.2000A>G, NM_001348484.2:c.2000A>G, NM_001348484.1:c.2000A>G, NM_001348489.2:c.1727A>G, NM_001348489.1:c.1727A>G, NM_001348490.2:c.1739A>G, NM_001348490.1:c.1739A>G, NR_145710.2:n.2136A>G, NR_145710.1:n.1998A>G, NM_001348491.2:c.1988A>G, NM_001348491.1:c.1988A>G, NM_001348486.2:c.1880A>G, NM_001348486.1:c.1880A>G, NM_001348494.2:c.1868A>G, NM_001348494.1:c.1868A>G, NM_001348488.2:c.1859A>G, NM_001348488.1:c.1859A>G, NM_001348509.2:c.1151A>G, NM_001348509.1:c.1151A>G, NM_001348487.2:c.1739A>G, NM_001348487.1:c.1739A>G, NM_001348495.2:c.1769A>G, NM_001348495.1:c.1769A>G, NM_001348492.2:c.1739A>G, NM_001348492.1:c.1739A>G, NM_001348496.2:c.1739A>G, NM_001348496.1:c.1739A>G, NM_001348493.2:c.1727A>G, NM_001348493.1:c.1727A>G, NM_001348497.2:c.1868A>G, NM_001348497.1:c.1868A>G, NM_001348503.2:c.1151A>G, NM_001348503.1:c.1151A>G, NM_001348498.2:c.1151A>G, NM_001348498.1:c.1151A>G, NM_001348501.2:c.1151A>G, NM_001348501.1:c.1151A>G, NM_001348485.2:c.1727A>G, NM_001348485.1:c.1727A>G, NM_001348505.2:c.1292A>G, NM_001348505.1:c.1292A>G, NM_001282881.2:c.1292A>G, NM_001282881.1:c.1292A>G, NM_001348499.2:c.1151A>G, NM_001348499.1:c.1151A>G, NM_001348507.2:c.1151A>G, NM_001348507.1:c.1151A>G, NM_001348508.2:c.1151A>G, NM_001348508.1:c.1151A>G, NM_001348506.2:c.1151A>G, NM_001348506.1:c.1151A>G, NR_145711.2:n.1439A>G, NR_145711.1:n.1471A>G, NM_001348504.2:c.1151A>G, NM_001348504.1:c.1151A>G, NM_001348500.2:c.1151A>G, NM_001348500.1:c.1151A>G, NM_001348502.2:c.1151A>G, NM_001348502.1:c.1151A>G, NM_001395654.1:c.1859A>G, NM_001395652.1:c.1739A>G, NM_001395653.1:c.1859A>G, XM_011517395.4:c.2042A>G, XM_011517395.3:c.2042A>G, XM_011517395.2:c.2042A>G, XM_011517395.1:c.2042A>G, XM_005251106.4:c.1868A>G, XM_005251106.3:c.1868A>G, XM_005251106.2:c.1868A>G, XM_005251106.1:c.1868A>G, XM_005251107.4:c.1868A>G, XM_005251107.3:c.1868A>G, XM_005251107.2:c.1868A>G, XM_005251107.1:c.1868A>G, XM_017014006.3:c.2042A>G, XM_017014006.2:c.2042A>G, XM_017014006.1:c.2042A>G, XM_017014008.3:c.2042A>G, XM_017014008.2:c.2042A>G, XM_017014008.1:c.2042A>G, XM_017014009.3:c.2042A>G, XM_017014009.2:c.2042A>G, XM_017014009.1:c.2042A>G, XM_017014010.3:c.1901A>G, XM_017014010.2:c.1901A>G, XM_017014010.1:c.1901A>G, XM_017014011.3:c.2042A>G, XM_017014011.2:c.2042A>G, XM_017014011.1:c.2042A>G, XM_017014012.3:c.2042A>G, XM_017014012.2:c.2042A>G, XM_017014012.1:c.2042A>G, XM_017014015.3:c.1901A>G, XM_017014015.2:c.1901A>G, XM_017014015.1:c.1901A>G, XM_017014016.3:c.1901A>G, XM_017014016.2:c.1901A>G, XM_017014016.1:c.1901A>G, XM_017014014.2:c.1727A>G, XM_017014014.1:c.1727A>G, XM_017014022.2:c.1292A>G, XM_017014022.1:c.1292A>G, XM_017014036.2:c.1151A>G, XM_017014036.1:c.1151A>G, XM_047422468.1:c.2042A>G, XM_047422469.1:c.2000A>G, XM_047422470.1:c.1910A>G, XM_047422471.1:c.1910A>G, XM_047422472.1:c.1910A>G, XM_047422473.1:c.1901A>G, XM_047422474.1:c.1868A>G, XM_047422475.1:c.1769A>G, XM_047422476.1:c.1769A>G, XM_047422477.1:c.1769A>G, XM_047422478.1:c.1868A>G, XM_047422479.1:c.1910A>G, XM_047422480.1:c.1910A>G, XM_047422481.1:c.1769A>G, XM_047422482.1:c.1727A>G, XM_047422483.1:c.1868A>G, NP_055492.3:p.Asp384Gly, NP_001093587.1:p.Asp576Gly, NP_001335413.1:p.Asp667Gly, NP_001335418.1:p.Asp576Gly, NP_001335419.1:p.Asp580Gly, NP_001335420.1:p.Asp663Gly, NP_001335415.1:p.Asp627Gly, NP_001335423.1:p.Asp623Gly, NP_001335417.1:p.Asp620Gly, NP_001335438.1:p.Asp384Gly, NP_001335416.1:p.Asp580Gly, NP_001335424.1:p.Asp590Gly, NP_001335421.1:p.Asp580Gly, NP_001335425.1:p.Asp580Gly, NP_001335422.1:p.Asp576Gly, NP_001335426.1:p.Asp623Gly, NP_001335432.1:p.Asp384Gly, NP_001335427.1:p.Asp384Gly, NP_001335430.1:p.Asp384Gly, NP_001335414.1:p.Asp576Gly, NP_001335434.1:p.Asp431Gly, NP_001269810.1:p.Asp431Gly, NP_001335428.1:p.Asp384Gly, NP_001335436.1:p.Asp384Gly, NP_001335437.1:p.Asp384Gly, NP_001335435.1:p.Asp384Gly, NP_001335433.1:p.Asp384Gly, NP_001335429.1:p.Asp384Gly, NP_001335431.1:p.Asp384Gly, NP_001382583.1:p.Asp620Gly, NP_001382581.1:p.Asp580Gly, NP_001382582.1:p.Asp620Gly, XP_011515697.1:p.Asp681Gly, XP_005251163.1:p.Asp623Gly, XP_005251164.1:p.Asp623Gly, XP_016869495.1:p.Asp681Gly, XP_016869497.1:p.Asp681Gly, XP_016869498.1:p.Asp681Gly, XP_016869499.1:p.Asp634Gly, XP_016869500.1:p.Asp681Gly, XP_016869501.1:p.Asp681Gly, XP_016869504.1:p.Asp634Gly, XP_016869505.1:p.Asp634Gly, XP_016869503.1:p.Asp576Gly, XP_016869511.1:p.Asp431Gly, XP_016869525.1:p.Asp384Gly, XP_047278424.1:p.Asp681Gly, XP_047278425.1:p.Asp667Gly, XP_047278426.1:p.Asp637Gly, XP_047278427.1:p.Asp637Gly, XP_047278428.1:p.Asp637Gly, XP_047278429.1:p.Asp634Gly, XP_047278430.1:p.Asp623Gly, XP_047278431.1:p.Asp590Gly, XP_047278432.1:p.Asp590Gly, XP_047278433.1:p.Asp590Gly, XP_047278434.1:p.Asp623Gly, XP_047278435.1:p.Asp637Gly, XP_047278436.1:p.Asp637Gly, XP_047278437.1:p.Asp590Gly, XP_047278438.1:p.Asp576Gly, XP_047278439.1:p.Asp623Gly

      3.

      rs1485867154 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        8:103885491 (GRCh38)
        8:104897719 (GRCh37)
        Canonical SPDI:
        NC_000008.11:103885490:A:G
        Gene:
        RIMS2 (Varview)
        Functional Consequence:
        missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000008.11:g.103885491A>G, NC_000008.10:g.104897719A>G, NG_053027.1:g.390466A>G, NM_014677.5:c.316A>G, NM_014677.4:c.316A>G, NM_001100117.3:c.892A>G, NM_001100117.2:c.892A>G, NM_001348484.3:c.1024A>G, NM_001348484.2:c.1024A>G, NM_001348484.1:c.1024A>G, NM_001348489.2:c.892A>G, NM_001348489.1:c.892A>G, NM_001348490.2:c.904A>G, NM_001348490.1:c.904A>G, NR_145710.2:n.1301A>G, NR_145710.1:n.1163A>G, NM_001348491.2:c.1012A>G, NM_001348491.1:c.1012A>G, NM_001348486.2:c.904A>G, NM_001348486.1:c.904A>G, NM_001348494.2:c.892A>G, NM_001348494.1:c.892A>G, NM_001348488.2:c.1024A>G, NM_001348488.1:c.1024A>G, NM_001348509.2:c.316A>G, NM_001348509.1:c.316A>G, NM_001348487.2:c.904A>G, NM_001348487.1:c.904A>G, NM_001348495.2:c.934A>G, NM_001348495.1:c.934A>G, NM_001348492.2:c.904A>G, NM_001348492.1:c.904A>G, NM_001348496.2:c.904A>G, NM_001348496.1:c.904A>G, NM_001348493.2:c.892A>G, NM_001348493.1:c.892A>G, NM_001348497.2:c.892A>G, NM_001348497.1:c.892A>G, NM_001348503.2:c.316A>G, NM_001348503.1:c.316A>G, NM_001348498.2:c.316A>G, NM_001348498.1:c.316A>G, NM_001348501.2:c.316A>G, NM_001348501.1:c.316A>G, NM_001348485.2:c.892A>G, NM_001348485.1:c.892A>G, NM_001348505.2:c.316A>G, NM_001348505.1:c.316A>G, NM_001282881.2:c.316A>G, NM_001282881.1:c.316A>G, NM_001348499.2:c.316A>G, NM_001348499.1:c.316A>G, NM_001348507.2:c.316A>G, NM_001348507.1:c.316A>G, NM_001348508.2:c.316A>G, NM_001348508.1:c.316A>G, NM_001348506.2:c.316A>G, NM_001348506.1:c.316A>G, NR_145711.2:n.604A>G, NR_145711.1:n.636A>G, NM_001348504.2:c.316A>G, NM_001348504.1:c.316A>G, NM_001348500.2:c.316A>G, NM_001348500.1:c.316A>G, NM_001348502.2:c.316A>G, NM_001348502.1:c.316A>G, NM_001395654.1:c.1024A>G, NM_001395652.1:c.904A>G, NM_001395653.1:c.1024A>G, XM_011517395.4:c.1066A>G, XM_011517395.3:c.1066A>G, XM_011517395.2:c.1066A>G, XM_011517395.1:c.1066A>G, XM_005251106.4:c.892A>G, XM_005251106.3:c.892A>G, XM_005251106.2:c.892A>G, XM_005251106.1:c.892A>G, XM_005251107.4:c.892A>G, XM_005251107.3:c.892A>G, XM_005251107.2:c.892A>G, XM_005251107.1:c.892A>G, XM_017014006.3:c.1066A>G, XM_017014006.2:c.1066A>G, XM_017014006.1:c.1066A>G, XM_017014008.3:c.1066A>G, XM_017014008.2:c.1066A>G, XM_017014008.1:c.1066A>G, XM_017014009.3:c.1066A>G, XM_017014009.2:c.1066A>G, XM_017014009.1:c.1066A>G, XM_017014010.3:c.1066A>G, XM_017014010.2:c.1066A>G, XM_017014010.1:c.1066A>G, XM_017014011.3:c.1066A>G, XM_017014011.2:c.1066A>G, XM_017014011.1:c.1066A>G, XM_017014012.3:c.1066A>G, XM_017014012.2:c.1066A>G, XM_017014012.1:c.1066A>G, XM_017014015.3:c.1066A>G, XM_017014015.2:c.1066A>G, XM_017014015.1:c.1066A>G, XM_017014016.3:c.1066A>G, XM_017014016.2:c.1066A>G, XM_017014016.1:c.1066A>G, XM_017014014.2:c.892A>G, XM_017014014.1:c.892A>G, XM_017014022.2:c.316A>G, XM_017014022.1:c.316A>G, XM_017014036.2:c.316A>G, XM_017014036.1:c.316A>G, XM_047422468.1:c.1066A>G, XM_047422469.1:c.1024A>G, XM_047422470.1:c.934A>G, XM_047422471.1:c.934A>G, XM_047422472.1:c.934A>G, XM_047422473.1:c.1066A>G, XM_047422474.1:c.892A>G, XM_047422475.1:c.934A>G, XM_047422476.1:c.934A>G, XM_047422477.1:c.934A>G, XM_047422478.1:c.892A>G, XM_047422479.1:c.934A>G, XM_047422480.1:c.934A>G, XM_047422481.1:c.934A>G, XM_047422482.1:c.892A>G, XM_047422483.1:c.892A>G, NP_055492.3:p.Arg106Gly, NP_001093587.1:p.Arg298Gly, NP_001335413.1:p.Arg342Gly, NP_001335418.1:p.Arg298Gly, NP_001335419.1:p.Arg302Gly, NP_001335420.1:p.Arg338Gly, NP_001335415.1:p.Arg302Gly, NP_001335423.1:p.Arg298Gly, NP_001335417.1:p.Arg342Gly, NP_001335438.1:p.Arg106Gly, NP_001335416.1:p.Arg302Gly, NP_001335424.1:p.Arg312Gly, NP_001335421.1:p.Arg302Gly, NP_001335425.1:p.Arg302Gly, NP_001335422.1:p.Arg298Gly, NP_001335426.1:p.Arg298Gly, NP_001335432.1:p.Arg106Gly, NP_001335427.1:p.Arg106Gly, NP_001335430.1:p.Arg106Gly, NP_001335414.1:p.Arg298Gly, NP_001335434.1:p.Arg106Gly, NP_001269810.1:p.Arg106Gly, NP_001335428.1:p.Arg106Gly, NP_001335436.1:p.Arg106Gly, NP_001335437.1:p.Arg106Gly, NP_001335435.1:p.Arg106Gly, NP_001335433.1:p.Arg106Gly, NP_001335429.1:p.Arg106Gly, NP_001335431.1:p.Arg106Gly, NP_001382583.1:p.Arg342Gly, NP_001382581.1:p.Arg302Gly, NP_001382582.1:p.Arg342Gly, XP_011515697.1:p.Arg356Gly, XP_005251163.1:p.Arg298Gly, XP_005251164.1:p.Arg298Gly, XP_016869495.1:p.Arg356Gly, XP_016869497.1:p.Arg356Gly, XP_016869498.1:p.Arg356Gly, XP_016869499.1:p.Arg356Gly, XP_016869500.1:p.Arg356Gly, XP_016869501.1:p.Arg356Gly, XP_016869504.1:p.Arg356Gly, XP_016869505.1:p.Arg356Gly, XP_016869503.1:p.Arg298Gly, XP_016869511.1:p.Arg106Gly, XP_016869525.1:p.Arg106Gly, XP_047278424.1:p.Arg356Gly, XP_047278425.1:p.Arg342Gly, XP_047278426.1:p.Arg312Gly, XP_047278427.1:p.Arg312Gly, XP_047278428.1:p.Arg312Gly, XP_047278429.1:p.Arg356Gly, XP_047278430.1:p.Arg298Gly, XP_047278431.1:p.Arg312Gly, XP_047278432.1:p.Arg312Gly, XP_047278433.1:p.Arg312Gly, XP_047278434.1:p.Arg298Gly, XP_047278435.1:p.Arg312Gly, XP_047278436.1:p.Arg312Gly, XP_047278437.1:p.Arg312Gly, XP_047278438.1:p.Arg298Gly, XP_047278439.1:p.Arg298Gly

        4.

        rs1485141143 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          8:104251085 (GRCh38)
          8:105263313 (GRCh37)
          Canonical SPDI:
          NC_000008.11:104251084:A:G
          Gene:
          RIMS2 (Varview)
          Functional Consequence:
          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000008.11:g.104251085A>G, NC_000008.10:g.105263313A>G, NG_053027.1:g.756060A>G, NM_014677.5:c.3195A>G, NM_014677.4:c.3195A>G, NM_001100117.3:c.3753A>G, NM_001100117.2:c.3753A>G, NM_001348484.3:c.4527A>G, NM_001348484.2:c.4527A>G, NM_001348484.1:c.4527A>G, NM_001348489.2:c.4353A>G, NM_001348489.1:c.4353A>G, NM_001348490.2:c.4266A>G, NM_001348490.1:c.4266A>G, NR_145710.2:n.4461A>G, NR_145710.1:n.4323A>G, NM_001348491.2:c.3966A>G, NM_001348491.1:c.3966A>G, NM_001348486.2:c.3924A>G, NM_001348486.1:c.3924A>G, NM_001348494.2:c.3912A>G, NM_001348494.1:c.3912A>G, NM_001348488.2:c.3837A>G, NM_001348488.1:c.3837A>G, NM_001348509.2:c.3774A>G, NM_001348509.1:c.3774A>G, NM_001348487.2:c.3783A>G, NM_001348487.1:c.3783A>G, NM_001348495.2:c.3780A>G, NM_001348495.1:c.3780A>G, NM_001348492.2:c.3750A>G, NM_001348492.1:c.3750A>G, NM_001348496.2:c.3717A>G, NM_001348496.1:c.3717A>G, NM_001348493.2:c.3705A>G, NM_001348493.1:c.3705A>G, NM_001348497.2:c.3699A>G, NM_001348497.1:c.3699A>G, NM_001348503.2:c.3678A>G, NM_001348503.1:c.3678A>G, NM_001348498.2:c.3678A>G, NM_001348498.1:c.3678A>G, NM_001348501.2:c.3531A>G, NM_001348501.1:c.3531A>G, NM_001348485.2:c.3525A>G, NM_001348485.1:c.3525A>G, NM_001348505.2:c.3336A>G, NM_001348505.1:c.3336A>G, NM_001282881.2:c.3270A>G, NM_001282881.1:c.3270A>G, NM_001348499.2:c.3261A>G, NM_001348499.1:c.3261A>G, NM_001348507.2:c.3177A>G, NM_001348507.1:c.3177A>G, NM_001348508.2:c.3162A>G, NM_001348508.1:c.3162A>G, NM_001348506.2:c.3129A>G, NM_001348506.1:c.3129A>G, NR_145711.2:n.3371A>G, NR_145711.1:n.3403A>G, NM_001348504.2:c.3030A>G, NM_001348504.1:c.3030A>G, NM_001348500.2:c.3015A>G, NM_001348500.1:c.3015A>G, NM_001348502.2:c.2949A>G, NM_001348502.1:c.2949A>G, NM_001282882.2:c.561A>G, NM_001282882.1:c.561A>G, NM_001395654.1:c.4386A>G, NM_001395652.1:c.4380A>G, NM_001395653.1:c.4239A>G, XM_011517395.4:c.4836A>G, XM_011517395.3:c.4836A>G, XM_011517395.2:c.4836A>G, XM_011517395.1:c.4836A>G, XM_005251106.4:c.4428A>G, XM_005251106.3:c.4428A>G, XM_005251106.2:c.4428A>G, XM_005251106.1:c.4428A>G, XM_005251107.4:c.4362A>G, XM_005251107.3:c.4362A>G, XM_005251107.2:c.4362A>G, XM_005251107.1:c.4362A>G, XM_006716698.4:c.645A>G, XM_006716698.3:c.645A>G, XM_006716698.2:c.645A>G, XM_006716698.1:c.645A>G, XM_017014006.3:c.4821A>G, XM_017014006.2:c.4821A>G, XM_017014006.1:c.4821A>G, XM_017014008.3:c.4722A>G, XM_017014008.2:c.4722A>G, XM_017014008.1:c.4722A>G, XM_017014009.3:c.4617A>G, XM_017014009.2:c.4617A>G, XM_017014009.1:c.4617A>G, XM_017014010.3:c.4581A>G, XM_017014010.2:c.4581A>G, XM_017014010.1:c.4581A>G, XM_017014011.3:c.4569A>G, XM_017014011.2:c.4569A>G, XM_017014011.1:c.4569A>G, XM_017014012.3:c.4536A>G, XM_017014012.2:c.4536A>G, XM_017014012.1:c.4536A>G, XM_017014015.3:c.4443A>G, XM_017014015.2:c.4443A>G, XM_017014015.1:c.4443A>G, XM_017014016.3:c.4428A>G, XM_017014016.2:c.4428A>G, XM_017014016.1:c.4428A>G, XM_017014014.2:c.4473A>G, XM_017014014.1:c.4473A>G, XM_017014022.2:c.4137A>G, XM_017014022.1:c.4137A>G, XM_017014036.2:c.3777A>G, XM_017014036.1:c.3777A>G, XM_047422468.1:c.4788A>G, XM_047422469.1:c.4746A>G, XM_047422470.1:c.4704A>G, XM_047422471.1:c.4689A>G, XM_047422472.1:c.4656A>G, XM_047422473.1:c.4647A>G, XM_047422474.1:c.4614A>G, XM_047422475.1:c.4563A>G, XM_047422476.1:c.4548A>G, XM_047422477.1:c.4515A>G, XM_047422478.1:c.4482A>G, XM_047422479.1:c.4476A>G, XM_047422480.1:c.4404A>G, XM_047422481.1:c.4263A>G, XM_047422482.1:c.4221A>G, XM_047422483.1:c.3846A>G

          5.

          rs1482007267 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            8:103961088 (GRCh38)
            8:104973316 (GRCh37)
            Canonical SPDI:
            NC_000008.11:103961087:G:A
            Gene:
            RIMS2 (Varview)
            Functional Consequence:
            missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.103961088G>A, NC_000008.10:g.104973316G>A, NG_053027.1:g.466063G>A, NM_014677.5:c.2101G>A, NM_014677.4:c.2101G>A, NM_001100117.3:c.2725G>A, NM_001100117.2:c.2725G>A, NM_001348484.3:c.2950G>A, NM_001348484.2:c.2950G>A, NM_001348484.1:c.2950G>A, NM_001348489.2:c.2677G>A, NM_001348489.1:c.2677G>A, NM_001348490.2:c.2689G>A, NM_001348490.1:c.2689G>A, NR_145710.2:n.3291G>A, NR_145710.1:n.3153G>A, NM_001348491.2:c.2938G>A, NM_001348491.1:c.2938G>A, NM_001348486.2:c.2830G>A, NM_001348486.1:c.2830G>A, NM_001348494.2:c.2818G>A, NM_001348494.1:c.2818G>A, NM_001348488.2:c.2809G>A, NM_001348488.1:c.2809G>A, NM_001348509.2:c.2101G>A, NM_001348509.1:c.2101G>A, NM_001348487.2:c.2689G>A, NM_001348487.1:c.2689G>A, NM_001348495.2:c.2719G>A, NM_001348495.1:c.2719G>A, NM_001348492.2:c.2689G>A, NM_001348492.1:c.2689G>A, NM_001348496.2:c.2689G>A, NM_001348496.1:c.2689G>A, NM_001348493.2:c.2677G>A, NM_001348493.1:c.2677G>A, NM_001348497.2:c.2818G>A, NM_001348497.1:c.2818G>A, NM_001348503.2:c.2101G>A, NM_001348503.1:c.2101G>A, NM_001348498.2:c.2101G>A, NM_001348498.1:c.2101G>A, NM_001348501.2:c.2101G>A, NM_001348501.1:c.2101G>A, NM_001348485.2:c.2677G>A, NM_001348485.1:c.2677G>A, NM_001348505.2:c.2242G>A, NM_001348505.1:c.2242G>A, NM_001282881.2:c.2242G>A, NM_001282881.1:c.2242G>A, NM_001348499.2:c.2101G>A, NM_001348499.1:c.2101G>A, NM_001348507.2:c.2149G>A, NM_001348507.1:c.2149G>A, NM_001348508.2:c.2101G>A, NM_001348508.1:c.2101G>A, NM_001348506.2:c.2101G>A, NM_001348506.1:c.2101G>A, NR_145711.2:n.2389G>A, NR_145711.1:n.2421G>A, NM_001348504.2:c.2149G>A, NM_001348504.1:c.2149G>A, NM_001348500.2:c.2101G>A, NM_001348500.1:c.2101G>A, NM_001348502.2:c.2101G>A, NM_001348502.1:c.2101G>A, NM_001395654.1:c.2809G>A, NM_001395652.1:c.2737G>A, NM_001395653.1:c.2809G>A, XM_011517395.4:c.3040G>A, XM_011517395.3:c.3040G>A, XM_011517395.2:c.3040G>A, XM_011517395.1:c.3040G>A, XM_005251106.4:c.2818G>A, XM_005251106.3:c.2818G>A, XM_005251106.2:c.2818G>A, XM_005251106.1:c.2818G>A, XM_005251107.4:c.2818G>A, XM_005251107.3:c.2818G>A, XM_005251107.2:c.2818G>A, XM_005251107.1:c.2818G>A, XM_017014006.3:c.2992G>A, XM_017014006.2:c.2992G>A, XM_017014006.1:c.2992G>A, XM_017014008.3:c.3040G>A, XM_017014008.2:c.3040G>A, XM_017014008.1:c.3040G>A, XM_017014009.3:c.3040G>A, XM_017014009.2:c.3040G>A, XM_017014009.1:c.3040G>A, XM_017014010.3:c.2899G>A, XM_017014010.2:c.2899G>A, XM_017014010.1:c.2899G>A, XM_017014011.3:c.2992G>A, XM_017014011.2:c.2992G>A, XM_017014011.1:c.2992G>A, XM_017014012.3:c.2992G>A, XM_017014012.2:c.2992G>A, XM_017014012.1:c.2992G>A, XM_017014015.3:c.2899G>A, XM_017014015.2:c.2899G>A, XM_017014015.1:c.2899G>A, XM_017014016.3:c.2851G>A, XM_017014016.2:c.2851G>A, XM_017014016.1:c.2851G>A, XM_017014014.2:c.2677G>A, XM_017014014.1:c.2677G>A, XM_017014022.2:c.2242G>A, XM_017014022.1:c.2242G>A, XM_017014036.2:c.2101G>A, XM_017014036.1:c.2101G>A, XM_047422468.1:c.2992G>A, XM_047422469.1:c.2950G>A, XM_047422470.1:c.2908G>A, XM_047422471.1:c.2860G>A, XM_047422472.1:c.2860G>A, XM_047422473.1:c.2851G>A, XM_047422474.1:c.2818G>A, XM_047422475.1:c.2767G>A, XM_047422476.1:c.2719G>A, XM_047422477.1:c.2719G>A, XM_047422478.1:c.2866G>A, XM_047422479.1:c.2860G>A, XM_047422480.1:c.2860G>A, XM_047422481.1:c.2719G>A, XM_047422482.1:c.2677G>A, XM_047422483.1:c.2818G>A, NP_055492.3:p.Glu701Lys, NP_001093587.1:p.Glu909Lys, NP_001335413.1:p.Glu984Lys, NP_001335418.1:p.Glu893Lys, NP_001335419.1:p.Glu897Lys, NP_001335420.1:p.Glu980Lys, NP_001335415.1:p.Glu944Lys, NP_001335423.1:p.Glu940Lys, NP_001335417.1:p.Glu937Lys, NP_001335438.1:p.Glu701Lys, NP_001335416.1:p.Glu897Lys, NP_001335424.1:p.Glu907Lys, NP_001335421.1:p.Glu897Lys, NP_001335425.1:p.Glu897Lys, NP_001335422.1:p.Glu893Lys, NP_001335426.1:p.Glu940Lys, NP_001335432.1:p.Glu701Lys, NP_001335427.1:p.Glu701Lys, NP_001335430.1:p.Glu701Lys, NP_001335414.1:p.Glu893Lys, NP_001335434.1:p.Glu748Lys, NP_001269810.1:p.Glu748Lys, NP_001335428.1:p.Glu701Lys, NP_001335436.1:p.Glu717Lys, NP_001335437.1:p.Glu701Lys, NP_001335435.1:p.Glu701Lys, NP_001335433.1:p.Glu717Lys, NP_001335429.1:p.Glu701Lys, NP_001335431.1:p.Glu701Lys, NP_001382583.1:p.Glu937Lys, NP_001382581.1:p.Glu913Lys, NP_001382582.1:p.Glu937Lys, XP_011515697.1:p.Glu1014Lys, XP_005251163.1:p.Glu940Lys, XP_005251164.1:p.Glu940Lys, XP_016869495.1:p.Glu998Lys, XP_016869497.1:p.Glu1014Lys, XP_016869498.1:p.Glu1014Lys, XP_016869499.1:p.Glu967Lys, XP_016869500.1:p.Glu998Lys, XP_016869501.1:p.Glu998Lys, XP_016869504.1:p.Glu967Lys, XP_016869505.1:p.Glu951Lys, XP_016869503.1:p.Glu893Lys, XP_016869511.1:p.Glu748Lys, XP_016869525.1:p.Glu701Lys, XP_047278424.1:p.Glu998Lys, XP_047278425.1:p.Glu984Lys, XP_047278426.1:p.Glu970Lys, XP_047278427.1:p.Glu954Lys, XP_047278428.1:p.Glu954Lys, XP_047278429.1:p.Glu951Lys, XP_047278430.1:p.Glu940Lys, XP_047278431.1:p.Glu923Lys, XP_047278432.1:p.Glu907Lys, XP_047278433.1:p.Glu907Lys, XP_047278434.1:p.Glu956Lys, XP_047278435.1:p.Glu954Lys, XP_047278436.1:p.Glu954Lys, XP_047278437.1:p.Glu907Lys, XP_047278438.1:p.Glu893Lys, XP_047278439.1:p.Glu940Lys

            6.

            rs1481980371 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              8:103989403 (GRCh38)
              8:105001631 (GRCh37)
              Canonical SPDI:
              NC_000008.11:103989402:A:G
              Gene:
              RIMS2 (Varview)
              Functional Consequence:
              missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000043/1 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.103989403A>G, NC_000008.10:g.105001631A>G, NG_053027.1:g.494378A>G, NM_014677.5:c.2402A>G, NM_014677.4:c.2402A>G, NM_001100117.3:c.3026A>G, NM_001100117.2:c.3026A>G, NM_001348484.3:c.3251A>G, NM_001348484.2:c.3251A>G, NM_001348484.1:c.3251A>G, NM_001348489.2:c.2978A>G, NM_001348489.1:c.2978A>G, NM_001348490.2:c.2990A>G, NM_001348490.1:c.2990A>G, NR_145710.2:n.3592A>G, NR_145710.1:n.3454A>G, NM_001348491.2:c.3239A>G, NM_001348491.1:c.3239A>G, NM_001348486.2:c.3131A>G, NM_001348486.1:c.3131A>G, NM_001348494.2:c.3119A>G, NM_001348494.1:c.3119A>G, NM_001348488.2:c.3110A>G, NM_001348488.1:c.3110A>G, NM_001348509.2:c.2402A>G, NM_001348509.1:c.2402A>G, NM_001348487.2:c.2990A>G, NM_001348487.1:c.2990A>G, NM_001348495.2:c.3020A>G, NM_001348495.1:c.3020A>G, NM_001348492.2:c.2990A>G, NM_001348492.1:c.2990A>G, NM_001348496.2:c.2990A>G, NM_001348496.1:c.2990A>G, NM_001348493.2:c.2978A>G, NM_001348493.1:c.2978A>G, NM_001348497.2:c.3119A>G, NM_001348497.1:c.3119A>G, NM_001348503.2:c.2402A>G, NM_001348503.1:c.2402A>G, NM_001348498.2:c.2402A>G, NM_001348498.1:c.2402A>G, NM_001348501.2:c.2402A>G, NM_001348501.1:c.2402A>G, NM_001348485.2:c.2978A>G, NM_001348485.1:c.2978A>G, NM_001348505.2:c.2543A>G, NM_001348505.1:c.2543A>G, NM_001282881.2:c.2543A>G, NM_001282881.1:c.2543A>G, NM_001348499.2:c.2402A>G, NM_001348499.1:c.2402A>G, NM_001348507.2:c.2450A>G, NM_001348507.1:c.2450A>G, NM_001348508.2:c.2402A>G, NM_001348508.1:c.2402A>G, NM_001348506.2:c.2402A>G, NM_001348506.1:c.2402A>G, NR_145711.2:n.2690A>G, NR_145711.1:n.2722A>G, NM_001348504.2:c.2450A>G, NM_001348504.1:c.2450A>G, NM_001348500.2:c.2402A>G, NM_001348500.1:c.2402A>G, NM_001348502.2:c.2402A>G, NM_001348502.1:c.2402A>G, NM_001395654.1:c.3110A>G, NM_001395652.1:c.3038A>G, NM_001395653.1:c.3110A>G, XM_011517395.4:c.3341A>G, XM_011517395.3:c.3341A>G, XM_011517395.2:c.3341A>G, XM_011517395.1:c.3341A>G, XM_005251106.4:c.3119A>G, XM_005251106.3:c.3119A>G, XM_005251106.2:c.3119A>G, XM_005251106.1:c.3119A>G, XM_005251107.4:c.3119A>G, XM_005251107.3:c.3119A>G, XM_005251107.2:c.3119A>G, XM_005251107.1:c.3119A>G, XM_017014006.3:c.3293A>G, XM_017014006.2:c.3293A>G, XM_017014006.1:c.3293A>G, XM_017014008.3:c.3341A>G, XM_017014008.2:c.3341A>G, XM_017014008.1:c.3341A>G, XM_017014009.3:c.3341A>G, XM_017014009.2:c.3341A>G, XM_017014009.1:c.3341A>G, XM_017014010.3:c.3200A>G, XM_017014010.2:c.3200A>G, XM_017014010.1:c.3200A>G, XM_017014011.3:c.3293A>G, XM_017014011.2:c.3293A>G, XM_017014011.1:c.3293A>G, XM_017014012.3:c.3293A>G, XM_017014012.2:c.3293A>G, XM_017014012.1:c.3293A>G, XM_017014015.3:c.3200A>G, XM_017014015.2:c.3200A>G, XM_017014015.1:c.3200A>G, XM_017014016.3:c.3152A>G, XM_017014016.2:c.3152A>G, XM_017014016.1:c.3152A>G, XM_017014014.2:c.2978A>G, XM_017014014.1:c.2978A>G, XM_017014022.2:c.2543A>G, XM_017014022.1:c.2543A>G, XM_017014036.2:c.2402A>G, XM_017014036.1:c.2402A>G, XM_047422468.1:c.3293A>G, XM_047422469.1:c.3251A>G, XM_047422470.1:c.3209A>G, XM_047422471.1:c.3161A>G, XM_047422472.1:c.3161A>G, XM_047422473.1:c.3152A>G, XM_047422474.1:c.3119A>G, XM_047422475.1:c.3068A>G, XM_047422476.1:c.3020A>G, XM_047422477.1:c.3020A>G, XM_047422478.1:c.3167A>G, XM_047422479.1:c.3161A>G, XM_047422480.1:c.3161A>G, XM_047422481.1:c.3020A>G, XM_047422482.1:c.2978A>G, XM_047422483.1:c.3119A>G, NP_055492.3:p.Tyr801Cys, NP_001093587.1:p.Tyr1009Cys, NP_001335413.1:p.Tyr1084Cys, NP_001335418.1:p.Tyr993Cys, NP_001335419.1:p.Tyr997Cys, NP_001335420.1:p.Tyr1080Cys, NP_001335415.1:p.Tyr1044Cys, NP_001335423.1:p.Tyr1040Cys, NP_001335417.1:p.Tyr1037Cys, NP_001335438.1:p.Tyr801Cys, NP_001335416.1:p.Tyr997Cys, NP_001335424.1:p.Tyr1007Cys, NP_001335421.1:p.Tyr997Cys, NP_001335425.1:p.Tyr997Cys, NP_001335422.1:p.Tyr993Cys, NP_001335426.1:p.Tyr1040Cys, NP_001335432.1:p.Tyr801Cys, NP_001335427.1:p.Tyr801Cys, NP_001335430.1:p.Tyr801Cys, NP_001335414.1:p.Tyr993Cys, NP_001335434.1:p.Tyr848Cys, NP_001269810.1:p.Tyr848Cys, NP_001335428.1:p.Tyr801Cys, NP_001335436.1:p.Tyr817Cys, NP_001335437.1:p.Tyr801Cys, NP_001335435.1:p.Tyr801Cys, NP_001335433.1:p.Tyr817Cys, NP_001335429.1:p.Tyr801Cys, NP_001335431.1:p.Tyr801Cys, NP_001382583.1:p.Tyr1037Cys, NP_001382581.1:p.Tyr1013Cys, NP_001382582.1:p.Tyr1037Cys, XP_011515697.1:p.Tyr1114Cys, XP_005251163.1:p.Tyr1040Cys, XP_005251164.1:p.Tyr1040Cys, XP_016869495.1:p.Tyr1098Cys, XP_016869497.1:p.Tyr1114Cys, XP_016869498.1:p.Tyr1114Cys, XP_016869499.1:p.Tyr1067Cys, XP_016869500.1:p.Tyr1098Cys, XP_016869501.1:p.Tyr1098Cys, XP_016869504.1:p.Tyr1067Cys, XP_016869505.1:p.Tyr1051Cys, XP_016869503.1:p.Tyr993Cys, XP_016869511.1:p.Tyr848Cys, XP_016869525.1:p.Tyr801Cys, XP_047278424.1:p.Tyr1098Cys, XP_047278425.1:p.Tyr1084Cys, XP_047278426.1:p.Tyr1070Cys, XP_047278427.1:p.Tyr1054Cys, XP_047278428.1:p.Tyr1054Cys, XP_047278429.1:p.Tyr1051Cys, XP_047278430.1:p.Tyr1040Cys, XP_047278431.1:p.Tyr1023Cys, XP_047278432.1:p.Tyr1007Cys, XP_047278433.1:p.Tyr1007Cys, XP_047278434.1:p.Tyr1056Cys, XP_047278435.1:p.Tyr1054Cys, XP_047278436.1:p.Tyr1054Cys, XP_047278437.1:p.Tyr1007Cys, XP_047278438.1:p.Tyr993Cys, XP_047278439.1:p.Tyr1040Cys

              7.

              rs1481394943 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                8:103819568 (GRCh38)
                8:104831796 (GRCh37)
                Canonical SPDI:
                NC_000008.11:103819567:T:G
                Gene:
                RIMS2 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000008.11:g.103819568T>G, NC_000008.10:g.104831796T>G, NG_053027.1:g.324543T>G, NM_014677.5:c.61T>G, NM_014677.4:c.61T>G, NM_001348509.2:c.61T>G, NM_001348509.1:c.61T>G, NM_001348503.2:c.61T>G, NM_001348503.1:c.61T>G, NM_001348498.2:c.61T>G, NM_001348498.1:c.61T>G, NM_001348501.2:c.61T>G, NM_001348501.1:c.61T>G, NM_001348505.2:c.61T>G, NM_001348505.1:c.61T>G, NM_001282881.2:c.61T>G, NM_001282881.1:c.61T>G, NM_001348499.2:c.61T>G, NM_001348499.1:c.61T>G, NM_001348507.2:c.61T>G, NM_001348507.1:c.61T>G, NM_001348508.2:c.61T>G, NM_001348508.1:c.61T>G, NM_001348506.2:c.61T>G, NM_001348506.1:c.61T>G, NR_145711.2:n.349T>G, NR_145711.1:n.381T>G, NM_001348504.2:c.61T>G, NM_001348504.1:c.61T>G, NM_001348500.2:c.61T>G, NM_001348500.1:c.61T>G, NM_001348502.2:c.61T>G, NM_001348502.1:c.61T>G, XM_017014022.2:c.61T>G, XM_017014022.1:c.61T>G, XM_017014036.2:c.61T>G, XM_017014036.1:c.61T>G, NP_055492.3:p.Phe21Val, NP_001335438.1:p.Phe21Val, NP_001335432.1:p.Phe21Val, NP_001335427.1:p.Phe21Val, NP_001335430.1:p.Phe21Val, NP_001335434.1:p.Phe21Val, NP_001269810.1:p.Phe21Val, NP_001335428.1:p.Phe21Val, NP_001335436.1:p.Phe21Val, NP_001335437.1:p.Phe21Val, NP_001335435.1:p.Phe21Val, NP_001335433.1:p.Phe21Val, NP_001335429.1:p.Phe21Val, NP_001335431.1:p.Phe21Val, XP_016869511.1:p.Phe21Val, XP_016869525.1:p.Phe21Val

                8.

                rs1480737521 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  8:103931302 (GRCh38)
                  8:104943530 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:103931301:G:A
                  Gene:
                  RIMS2 (Varview)
                  Functional Consequence:
                  missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000008.11:g.103931302G>A, NC_000008.10:g.104943530G>A, NG_053027.1:g.436277G>A, NM_014677.5:c.1660G>A, NM_014677.4:c.1660G>A, NM_001100117.3:c.2284G>A, NM_001100117.2:c.2284G>A, NM_001348484.3:c.2509G>A, NM_001348484.2:c.2509G>A, NM_001348484.1:c.2509G>A, NM_001348489.2:c.2236G>A, NM_001348489.1:c.2236G>A, NM_001348490.2:c.2248G>A, NM_001348490.1:c.2248G>A, NR_145710.2:n.2645G>A, NR_145710.1:n.2507G>A, NM_001348491.2:c.2497G>A, NM_001348491.1:c.2497G>A, NM_001348486.2:c.2389G>A, NM_001348486.1:c.2389G>A, NM_001348494.2:c.2377G>A, NM_001348494.1:c.2377G>A, NM_001348488.2:c.2368G>A, NM_001348488.1:c.2368G>A, NM_001348509.2:c.1660G>A, NM_001348509.1:c.1660G>A, NM_001348487.2:c.2248G>A, NM_001348487.1:c.2248G>A, NM_001348495.2:c.2278G>A, NM_001348495.1:c.2278G>A, NM_001348492.2:c.2248G>A, NM_001348492.1:c.2248G>A, NM_001348496.2:c.2248G>A, NM_001348496.1:c.2248G>A, NM_001348493.2:c.2236G>A, NM_001348493.1:c.2236G>A, NM_001348497.2:c.2377G>A, NM_001348497.1:c.2377G>A, NM_001348503.2:c.1660G>A, NM_001348503.1:c.1660G>A, NM_001348498.2:c.1660G>A, NM_001348498.1:c.1660G>A, NM_001348501.2:c.1660G>A, NM_001348501.1:c.1660G>A, NM_001348485.2:c.2236G>A, NM_001348485.1:c.2236G>A, NM_001348505.2:c.1801G>A, NM_001348505.1:c.1801G>A, NM_001282881.2:c.1801G>A, NM_001282881.1:c.1801G>A, NM_001348499.2:c.1660G>A, NM_001348499.1:c.1660G>A, NM_001348507.2:c.1708G>A, NM_001348507.1:c.1708G>A, NM_001348508.2:c.1660G>A, NM_001348508.1:c.1660G>A, NM_001348506.2:c.1660G>A, NM_001348506.1:c.1660G>A, NR_145711.2:n.1948G>A, NR_145711.1:n.1980G>A, NM_001348504.2:c.1708G>A, NM_001348504.1:c.1708G>A, NM_001348500.2:c.1660G>A, NM_001348500.1:c.1660G>A, NM_001348502.2:c.1660G>A, NM_001348502.1:c.1660G>A, NM_001395654.1:c.2368G>A, NM_001395652.1:c.2296G>A, NM_001395653.1:c.2368G>A, XM_011517395.4:c.2599G>A, XM_011517395.3:c.2599G>A, XM_011517395.2:c.2599G>A, XM_011517395.1:c.2599G>A, XM_005251106.4:c.2377G>A, XM_005251106.3:c.2377G>A, XM_005251106.2:c.2377G>A, XM_005251106.1:c.2377G>A, XM_005251107.4:c.2377G>A, XM_005251107.3:c.2377G>A, XM_005251107.2:c.2377G>A, XM_005251107.1:c.2377G>A, XM_017014006.3:c.2551G>A, XM_017014006.2:c.2551G>A, XM_017014006.1:c.2551G>A, XM_017014008.3:c.2599G>A, XM_017014008.2:c.2599G>A, XM_017014008.1:c.2599G>A, XM_017014009.3:c.2599G>A, XM_017014009.2:c.2599G>A, XM_017014009.1:c.2599G>A, XM_017014010.3:c.2458G>A, XM_017014010.2:c.2458G>A, XM_017014010.1:c.2458G>A, XM_017014011.3:c.2551G>A, XM_017014011.2:c.2551G>A, XM_017014011.1:c.2551G>A, XM_017014012.3:c.2551G>A, XM_017014012.2:c.2551G>A, XM_017014012.1:c.2551G>A, XM_017014015.3:c.2458G>A, XM_017014015.2:c.2458G>A, XM_017014015.1:c.2458G>A, XM_017014016.3:c.2410G>A, XM_017014016.2:c.2410G>A, XM_017014016.1:c.2410G>A, XM_017014014.2:c.2236G>A, XM_017014014.1:c.2236G>A, XM_017014022.2:c.1801G>A, XM_017014022.1:c.1801G>A, XM_017014036.2:c.1660G>A, XM_017014036.1:c.1660G>A, XM_047422468.1:c.2551G>A, XM_047422469.1:c.2509G>A, XM_047422470.1:c.2467G>A, XM_047422471.1:c.2419G>A, XM_047422472.1:c.2419G>A, XM_047422473.1:c.2410G>A, XM_047422474.1:c.2377G>A, XM_047422475.1:c.2326G>A, XM_047422476.1:c.2278G>A, XM_047422477.1:c.2278G>A, XM_047422478.1:c.2425G>A, XM_047422479.1:c.2419G>A, XM_047422480.1:c.2419G>A, XM_047422481.1:c.2278G>A, XM_047422482.1:c.2236G>A, XM_047422483.1:c.2377G>A, NP_055492.3:p.Val554Ile, NP_001093587.1:p.Val762Ile, NP_001335413.1:p.Val837Ile, NP_001335418.1:p.Val746Ile, NP_001335419.1:p.Val750Ile, NP_001335420.1:p.Val833Ile, NP_001335415.1:p.Val797Ile, NP_001335423.1:p.Val793Ile, NP_001335417.1:p.Val790Ile, NP_001335438.1:p.Val554Ile, NP_001335416.1:p.Val750Ile, NP_001335424.1:p.Val760Ile, NP_001335421.1:p.Val750Ile, NP_001335425.1:p.Val750Ile, NP_001335422.1:p.Val746Ile, NP_001335426.1:p.Val793Ile, NP_001335432.1:p.Val554Ile, NP_001335427.1:p.Val554Ile, NP_001335430.1:p.Val554Ile, NP_001335414.1:p.Val746Ile, NP_001335434.1:p.Val601Ile, NP_001269810.1:p.Val601Ile, NP_001335428.1:p.Val554Ile, NP_001335436.1:p.Val570Ile, NP_001335437.1:p.Val554Ile, NP_001335435.1:p.Val554Ile, NP_001335433.1:p.Val570Ile, NP_001335429.1:p.Val554Ile, NP_001335431.1:p.Val554Ile, NP_001382583.1:p.Val790Ile, NP_001382581.1:p.Val766Ile, NP_001382582.1:p.Val790Ile, XP_011515697.1:p.Val867Ile, XP_005251163.1:p.Val793Ile, XP_005251164.1:p.Val793Ile, XP_016869495.1:p.Val851Ile, XP_016869497.1:p.Val867Ile, XP_016869498.1:p.Val867Ile, XP_016869499.1:p.Val820Ile, XP_016869500.1:p.Val851Ile, XP_016869501.1:p.Val851Ile, XP_016869504.1:p.Val820Ile, XP_016869505.1:p.Val804Ile, XP_016869503.1:p.Val746Ile, XP_016869511.1:p.Val601Ile, XP_016869525.1:p.Val554Ile, XP_047278424.1:p.Val851Ile, XP_047278425.1:p.Val837Ile, XP_047278426.1:p.Val823Ile, XP_047278427.1:p.Val807Ile, XP_047278428.1:p.Val807Ile, XP_047278429.1:p.Val804Ile, XP_047278430.1:p.Val793Ile, XP_047278431.1:p.Val776Ile, XP_047278432.1:p.Val760Ile, XP_047278433.1:p.Val760Ile, XP_047278434.1:p.Val809Ile, XP_047278435.1:p.Val807Ile, XP_047278436.1:p.Val807Ile, XP_047278437.1:p.Val760Ile, XP_047278438.1:p.Val746Ile, XP_047278439.1:p.Val793Ile

                  9.

                  rs1480571510 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    8:103916478 (GRCh38)
                    8:104928706 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:103916477:C:T
                    Gene:
                    RIMS2 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000008.11:g.103916478C>T, NC_000008.10:g.104928706C>T, NG_053027.1:g.421453C>T, NM_014677.5:c.1401C>T, NM_014677.4:c.1401C>T, NM_001100117.3:c.1977C>T, NM_001100117.2:c.1977C>T, NM_001348484.3:c.2250C>T, NM_001348484.2:c.2250C>T, NM_001348484.1:c.2250C>T, NM_001348489.2:c.1977C>T, NM_001348489.1:c.1977C>T, NM_001348490.2:c.1989C>T, NM_001348490.1:c.1989C>T, NR_145710.2:n.2386C>T, NR_145710.1:n.2248C>T, NM_001348491.2:c.2238C>T, NM_001348491.1:c.2238C>T, NM_001348486.2:c.2130C>T, NM_001348486.1:c.2130C>T, NM_001348494.2:c.2118C>T, NM_001348494.1:c.2118C>T, NM_001348488.2:c.2109C>T, NM_001348488.1:c.2109C>T, NM_001348509.2:c.1401C>T, NM_001348509.1:c.1401C>T, NM_001348487.2:c.1989C>T, NM_001348487.1:c.1989C>T, NM_001348495.2:c.2019C>T, NM_001348495.1:c.2019C>T, NM_001348492.2:c.1989C>T, NM_001348492.1:c.1989C>T, NM_001348496.2:c.1989C>T, NM_001348496.1:c.1989C>T, NM_001348493.2:c.1977C>T, NM_001348493.1:c.1977C>T, NM_001348497.2:c.2118C>T, NM_001348497.1:c.2118C>T, NM_001348503.2:c.1401C>T, NM_001348503.1:c.1401C>T, NM_001348498.2:c.1401C>T, NM_001348498.1:c.1401C>T, NM_001348501.2:c.1401C>T, NM_001348501.1:c.1401C>T, NM_001348485.2:c.1977C>T, NM_001348485.1:c.1977C>T, NM_001348505.2:c.1542C>T, NM_001348505.1:c.1542C>T, NM_001282881.2:c.1542C>T, NM_001282881.1:c.1542C>T, NM_001348499.2:c.1401C>T, NM_001348499.1:c.1401C>T, NM_001348507.2:c.1401C>T, NM_001348507.1:c.1401C>T, NM_001348508.2:c.1401C>T, NM_001348508.1:c.1401C>T, NM_001348506.2:c.1401C>T, NM_001348506.1:c.1401C>T, NR_145711.2:n.1689C>T, NR_145711.1:n.1721C>T, NM_001348504.2:c.1401C>T, NM_001348504.1:c.1401C>T, NM_001348500.2:c.1401C>T, NM_001348500.1:c.1401C>T, NM_001348502.2:c.1401C>T, NM_001348502.1:c.1401C>T, NM_001395654.1:c.2109C>T, NM_001395652.1:c.1989C>T, NM_001395653.1:c.2109C>T, XM_011517395.4:c.2292C>T, XM_011517395.3:c.2292C>T, XM_011517395.2:c.2292C>T, XM_011517395.1:c.2292C>T, XM_005251106.4:c.2118C>T, XM_005251106.3:c.2118C>T, XM_005251106.2:c.2118C>T, XM_005251106.1:c.2118C>T, XM_005251107.4:c.2118C>T, XM_005251107.3:c.2118C>T, XM_005251107.2:c.2118C>T, XM_005251107.1:c.2118C>T, XM_017014006.3:c.2292C>T, XM_017014006.2:c.2292C>T, XM_017014006.1:c.2292C>T, XM_017014008.3:c.2292C>T, XM_017014008.2:c.2292C>T, XM_017014008.1:c.2292C>T, XM_017014009.3:c.2292C>T, XM_017014009.2:c.2292C>T, XM_017014009.1:c.2292C>T, XM_017014010.3:c.2151C>T, XM_017014010.2:c.2151C>T, XM_017014010.1:c.2151C>T, XM_017014011.3:c.2292C>T, XM_017014011.2:c.2292C>T, XM_017014011.1:c.2292C>T, XM_017014012.3:c.2292C>T, XM_017014012.2:c.2292C>T, XM_017014012.1:c.2292C>T, XM_017014015.3:c.2151C>T, XM_017014015.2:c.2151C>T, XM_017014015.1:c.2151C>T, XM_017014016.3:c.2151C>T, XM_017014016.2:c.2151C>T, XM_017014016.1:c.2151C>T, XM_017014014.2:c.1977C>T, XM_017014014.1:c.1977C>T, XM_017014022.2:c.1542C>T, XM_017014022.1:c.1542C>T, XM_017014036.2:c.1401C>T, XM_017014036.1:c.1401C>T, XM_047422468.1:c.2292C>T, XM_047422469.1:c.2250C>T, XM_047422470.1:c.2160C>T, XM_047422471.1:c.2160C>T, XM_047422472.1:c.2160C>T, XM_047422473.1:c.2151C>T, XM_047422474.1:c.2118C>T, XM_047422475.1:c.2019C>T, XM_047422476.1:c.2019C>T, XM_047422477.1:c.2019C>T, XM_047422478.1:c.2118C>T, XM_047422479.1:c.2160C>T, XM_047422480.1:c.2160C>T, XM_047422481.1:c.2019C>T, XM_047422482.1:c.1977C>T, XM_047422483.1:c.2118C>T

                    10.

                    rs1479435587 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      8:103885713 (GRCh38)
                      8:104897941 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:103885712:T:C
                      Gene:
                      RIMS2 (Varview)
                      Functional Consequence:
                      missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000008.11:g.103885713T>C, NC_000008.10:g.104897941T>C, NG_053027.1:g.390688T>C, NM_014677.5:c.538T>C, NM_014677.4:c.538T>C, NM_001100117.3:c.1114T>C, NM_001100117.2:c.1114T>C, NM_001348484.3:c.1246T>C, NM_001348484.2:c.1246T>C, NM_001348484.1:c.1246T>C, NM_001348489.2:c.1114T>C, NM_001348489.1:c.1114T>C, NM_001348490.2:c.1126T>C, NM_001348490.1:c.1126T>C, NR_145710.2:n.1523T>C, NR_145710.1:n.1385T>C, NM_001348491.2:c.1234T>C, NM_001348491.1:c.1234T>C, NM_001348486.2:c.1126T>C, NM_001348486.1:c.1126T>C, NM_001348494.2:c.1114T>C, NM_001348494.1:c.1114T>C, NM_001348488.2:c.1246T>C, NM_001348488.1:c.1246T>C, NM_001348509.2:c.538T>C, NM_001348509.1:c.538T>C, NM_001348487.2:c.1126T>C, NM_001348487.1:c.1126T>C, NM_001348495.2:c.1156T>C, NM_001348495.1:c.1156T>C, NM_001348492.2:c.1126T>C, NM_001348492.1:c.1126T>C, NM_001348496.2:c.1126T>C, NM_001348496.1:c.1126T>C, NM_001348493.2:c.1114T>C, NM_001348493.1:c.1114T>C, NM_001348497.2:c.1114T>C, NM_001348497.1:c.1114T>C, NM_001348503.2:c.538T>C, NM_001348503.1:c.538T>C, NM_001348498.2:c.538T>C, NM_001348498.1:c.538T>C, NM_001348501.2:c.538T>C, NM_001348501.1:c.538T>C, NM_001348485.2:c.1114T>C, NM_001348485.1:c.1114T>C, NM_001348505.2:c.538T>C, NM_001348505.1:c.538T>C, NM_001282881.2:c.538T>C, NM_001282881.1:c.538T>C, NM_001348499.2:c.538T>C, NM_001348499.1:c.538T>C, NM_001348507.2:c.538T>C, NM_001348507.1:c.538T>C, NM_001348508.2:c.538T>C, NM_001348508.1:c.538T>C, NM_001348506.2:c.538T>C, NM_001348506.1:c.538T>C, NR_145711.2:n.826T>C, NR_145711.1:n.858T>C, NM_001348504.2:c.538T>C, NM_001348504.1:c.538T>C, NM_001348500.2:c.538T>C, NM_001348500.1:c.538T>C, NM_001348502.2:c.538T>C, NM_001348502.1:c.538T>C, NM_001395654.1:c.1246T>C, NM_001395652.1:c.1126T>C, NM_001395653.1:c.1246T>C, XM_011517395.4:c.1288T>C, XM_011517395.3:c.1288T>C, XM_011517395.2:c.1288T>C, XM_011517395.1:c.1288T>C, XM_005251106.4:c.1114T>C, XM_005251106.3:c.1114T>C, XM_005251106.2:c.1114T>C, XM_005251106.1:c.1114T>C, XM_005251107.4:c.1114T>C, XM_005251107.3:c.1114T>C, XM_005251107.2:c.1114T>C, XM_005251107.1:c.1114T>C, XM_017014006.3:c.1288T>C, XM_017014006.2:c.1288T>C, XM_017014006.1:c.1288T>C, XM_017014008.3:c.1288T>C, XM_017014008.2:c.1288T>C, XM_017014008.1:c.1288T>C, XM_017014009.3:c.1288T>C, XM_017014009.2:c.1288T>C, XM_017014009.1:c.1288T>C, XM_017014010.3:c.1288T>C, XM_017014010.2:c.1288T>C, XM_017014010.1:c.1288T>C, XM_017014011.3:c.1288T>C, XM_017014011.2:c.1288T>C, XM_017014011.1:c.1288T>C, XM_017014012.3:c.1288T>C, XM_017014012.2:c.1288T>C, XM_017014012.1:c.1288T>C, XM_017014015.3:c.1288T>C, XM_017014015.2:c.1288T>C, XM_017014015.1:c.1288T>C, XM_017014016.3:c.1288T>C, XM_017014016.2:c.1288T>C, XM_017014016.1:c.1288T>C, XM_017014014.2:c.1114T>C, XM_017014014.1:c.1114T>C, XM_017014022.2:c.538T>C, XM_017014022.1:c.538T>C, XM_017014036.2:c.538T>C, XM_017014036.1:c.538T>C, XM_047422468.1:c.1288T>C, XM_047422469.1:c.1246T>C, XM_047422470.1:c.1156T>C, XM_047422471.1:c.1156T>C, XM_047422472.1:c.1156T>C, XM_047422473.1:c.1288T>C, XM_047422474.1:c.1114T>C, XM_047422475.1:c.1156T>C, XM_047422476.1:c.1156T>C, XM_047422477.1:c.1156T>C, XM_047422478.1:c.1114T>C, XM_047422479.1:c.1156T>C, XM_047422480.1:c.1156T>C, XM_047422481.1:c.1156T>C, XM_047422482.1:c.1114T>C, XM_047422483.1:c.1114T>C, NP_055492.3:p.Ser180Pro, NP_001093587.1:p.Ser372Pro, NP_001335413.1:p.Ser416Pro, NP_001335418.1:p.Ser372Pro, NP_001335419.1:p.Ser376Pro, NP_001335420.1:p.Ser412Pro, NP_001335415.1:p.Ser376Pro, NP_001335423.1:p.Ser372Pro, NP_001335417.1:p.Ser416Pro, NP_001335438.1:p.Ser180Pro, NP_001335416.1:p.Ser376Pro, NP_001335424.1:p.Ser386Pro, NP_001335421.1:p.Ser376Pro, NP_001335425.1:p.Ser376Pro, NP_001335422.1:p.Ser372Pro, NP_001335426.1:p.Ser372Pro, NP_001335432.1:p.Ser180Pro, NP_001335427.1:p.Ser180Pro, NP_001335430.1:p.Ser180Pro, NP_001335414.1:p.Ser372Pro, NP_001335434.1:p.Ser180Pro, NP_001269810.1:p.Ser180Pro, NP_001335428.1:p.Ser180Pro, NP_001335436.1:p.Ser180Pro, NP_001335437.1:p.Ser180Pro, NP_001335435.1:p.Ser180Pro, NP_001335433.1:p.Ser180Pro, NP_001335429.1:p.Ser180Pro, NP_001335431.1:p.Ser180Pro, NP_001382583.1:p.Ser416Pro, NP_001382581.1:p.Ser376Pro, NP_001382582.1:p.Ser416Pro, XP_011515697.1:p.Ser430Pro, XP_005251163.1:p.Ser372Pro, XP_005251164.1:p.Ser372Pro, XP_016869495.1:p.Ser430Pro, XP_016869497.1:p.Ser430Pro, XP_016869498.1:p.Ser430Pro, XP_016869499.1:p.Ser430Pro, XP_016869500.1:p.Ser430Pro, XP_016869501.1:p.Ser430Pro, XP_016869504.1:p.Ser430Pro, XP_016869505.1:p.Ser430Pro, XP_016869503.1:p.Ser372Pro, XP_016869511.1:p.Ser180Pro, XP_016869525.1:p.Ser180Pro, XP_047278424.1:p.Ser430Pro, XP_047278425.1:p.Ser416Pro, XP_047278426.1:p.Ser386Pro, XP_047278427.1:p.Ser386Pro, XP_047278428.1:p.Ser386Pro, XP_047278429.1:p.Ser430Pro, XP_047278430.1:p.Ser372Pro, XP_047278431.1:p.Ser386Pro, XP_047278432.1:p.Ser386Pro, XP_047278433.1:p.Ser386Pro, XP_047278434.1:p.Ser372Pro, XP_047278435.1:p.Ser386Pro, XP_047278436.1:p.Ser386Pro, XP_047278437.1:p.Ser386Pro, XP_047278438.1:p.Ser372Pro, XP_047278439.1:p.Ser372Pro

                      11.

                      rs1479174007 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        8:103916443 (GRCh38)
                        8:104928671 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:103916442:C:G
                        Gene:
                        RIMS2 (Varview)
                        Functional Consequence:
                        missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        NC_000008.11:g.103916443C>G, NC_000008.10:g.104928671C>G, NG_053027.1:g.421418C>G, NM_014677.5:c.1366C>G, NM_014677.4:c.1366C>G, NM_001100117.3:c.1942C>G, NM_001100117.2:c.1942C>G, NM_001348484.3:c.2215C>G, NM_001348484.2:c.2215C>G, NM_001348484.1:c.2215C>G, NM_001348489.2:c.1942C>G, NM_001348489.1:c.1942C>G, NM_001348490.2:c.1954C>G, NM_001348490.1:c.1954C>G, NR_145710.2:n.2351C>G, NR_145710.1:n.2213C>G, NM_001348491.2:c.2203C>G, NM_001348491.1:c.2203C>G, NM_001348486.2:c.2095C>G, NM_001348486.1:c.2095C>G, NM_001348494.2:c.2083C>G, NM_001348494.1:c.2083C>G, NM_001348488.2:c.2074C>G, NM_001348488.1:c.2074C>G, NM_001348509.2:c.1366C>G, NM_001348509.1:c.1366C>G, NM_001348487.2:c.1954C>G, NM_001348487.1:c.1954C>G, NM_001348495.2:c.1984C>G, NM_001348495.1:c.1984C>G, NM_001348492.2:c.1954C>G, NM_001348492.1:c.1954C>G, NM_001348496.2:c.1954C>G, NM_001348496.1:c.1954C>G, NM_001348493.2:c.1942C>G, NM_001348493.1:c.1942C>G, NM_001348497.2:c.2083C>G, NM_001348497.1:c.2083C>G, NM_001348503.2:c.1366C>G, NM_001348503.1:c.1366C>G, NM_001348498.2:c.1366C>G, NM_001348498.1:c.1366C>G, NM_001348501.2:c.1366C>G, NM_001348501.1:c.1366C>G, NM_001348485.2:c.1942C>G, NM_001348485.1:c.1942C>G, NM_001348505.2:c.1507C>G, NM_001348505.1:c.1507C>G, NM_001282881.2:c.1507C>G, NM_001282881.1:c.1507C>G, NM_001348499.2:c.1366C>G, NM_001348499.1:c.1366C>G, NM_001348507.2:c.1366C>G, NM_001348507.1:c.1366C>G, NM_001348508.2:c.1366C>G, NM_001348508.1:c.1366C>G, NM_001348506.2:c.1366C>G, NM_001348506.1:c.1366C>G, NR_145711.2:n.1654C>G, NR_145711.1:n.1686C>G, NM_001348504.2:c.1366C>G, NM_001348504.1:c.1366C>G, NM_001348500.2:c.1366C>G, NM_001348500.1:c.1366C>G, NM_001348502.2:c.1366C>G, NM_001348502.1:c.1366C>G, NM_001395654.1:c.2074C>G, NM_001395652.1:c.1954C>G, NM_001395653.1:c.2074C>G, XM_011517395.4:c.2257C>G, XM_011517395.3:c.2257C>G, XM_011517395.2:c.2257C>G, XM_011517395.1:c.2257C>G, XM_005251106.4:c.2083C>G, XM_005251106.3:c.2083C>G, XM_005251106.2:c.2083C>G, XM_005251106.1:c.2083C>G, XM_005251107.4:c.2083C>G, XM_005251107.3:c.2083C>G, XM_005251107.2:c.2083C>G, XM_005251107.1:c.2083C>G, XM_017014006.3:c.2257C>G, XM_017014006.2:c.2257C>G, XM_017014006.1:c.2257C>G, XM_017014008.3:c.2257C>G, XM_017014008.2:c.2257C>G, XM_017014008.1:c.2257C>G, XM_017014009.3:c.2257C>G, XM_017014009.2:c.2257C>G, XM_017014009.1:c.2257C>G, XM_017014010.3:c.2116C>G, XM_017014010.2:c.2116C>G, XM_017014010.1:c.2116C>G, XM_017014011.3:c.2257C>G, XM_017014011.2:c.2257C>G, XM_017014011.1:c.2257C>G, XM_017014012.3:c.2257C>G, XM_017014012.2:c.2257C>G, XM_017014012.1:c.2257C>G, XM_017014015.3:c.2116C>G, XM_017014015.2:c.2116C>G, XM_017014015.1:c.2116C>G, XM_017014016.3:c.2116C>G, XM_017014016.2:c.2116C>G, XM_017014016.1:c.2116C>G, XM_017014014.2:c.1942C>G, XM_017014014.1:c.1942C>G, XM_017014022.2:c.1507C>G, XM_017014022.1:c.1507C>G, XM_017014036.2:c.1366C>G, XM_017014036.1:c.1366C>G, XM_047422468.1:c.2257C>G, XM_047422469.1:c.2215C>G, XM_047422470.1:c.2125C>G, XM_047422471.1:c.2125C>G, XM_047422472.1:c.2125C>G, XM_047422473.1:c.2116C>G, XM_047422474.1:c.2083C>G, XM_047422475.1:c.1984C>G, XM_047422476.1:c.1984C>G, XM_047422477.1:c.1984C>G, XM_047422478.1:c.2083C>G, XM_047422479.1:c.2125C>G, XM_047422480.1:c.2125C>G, XM_047422481.1:c.1984C>G, XM_047422482.1:c.1942C>G, XM_047422483.1:c.2083C>G, NP_055492.3:p.Leu456Val, NP_001093587.1:p.Leu648Val, NP_001335413.1:p.Leu739Val, NP_001335418.1:p.Leu648Val, NP_001335419.1:p.Leu652Val, NP_001335420.1:p.Leu735Val, NP_001335415.1:p.Leu699Val, NP_001335423.1:p.Leu695Val, NP_001335417.1:p.Leu692Val, NP_001335438.1:p.Leu456Val, NP_001335416.1:p.Leu652Val, NP_001335424.1:p.Leu662Val, NP_001335421.1:p.Leu652Val, NP_001335425.1:p.Leu652Val, NP_001335422.1:p.Leu648Val, NP_001335426.1:p.Leu695Val, NP_001335432.1:p.Leu456Val, NP_001335427.1:p.Leu456Val, NP_001335430.1:p.Leu456Val, NP_001335414.1:p.Leu648Val, NP_001335434.1:p.Leu503Val, NP_001269810.1:p.Leu503Val, NP_001335428.1:p.Leu456Val, NP_001335436.1:p.Leu456Val, NP_001335437.1:p.Leu456Val, NP_001335435.1:p.Leu456Val, NP_001335433.1:p.Leu456Val, NP_001335429.1:p.Leu456Val, NP_001335431.1:p.Leu456Val, NP_001382583.1:p.Leu692Val, NP_001382581.1:p.Leu652Val, NP_001382582.1:p.Leu692Val, XP_011515697.1:p.Leu753Val, XP_005251163.1:p.Leu695Val, XP_005251164.1:p.Leu695Val, XP_016869495.1:p.Leu753Val, XP_016869497.1:p.Leu753Val, XP_016869498.1:p.Leu753Val, XP_016869499.1:p.Leu706Val, XP_016869500.1:p.Leu753Val, XP_016869501.1:p.Leu753Val, XP_016869504.1:p.Leu706Val, XP_016869505.1:p.Leu706Val, XP_016869503.1:p.Leu648Val, XP_016869511.1:p.Leu503Val, XP_016869525.1:p.Leu456Val, XP_047278424.1:p.Leu753Val, XP_047278425.1:p.Leu739Val, XP_047278426.1:p.Leu709Val, XP_047278427.1:p.Leu709Val, XP_047278428.1:p.Leu709Val, XP_047278429.1:p.Leu706Val, XP_047278430.1:p.Leu695Val, XP_047278431.1:p.Leu662Val, XP_047278432.1:p.Leu662Val, XP_047278433.1:p.Leu662Val, XP_047278434.1:p.Leu695Val, XP_047278435.1:p.Leu709Val, XP_047278436.1:p.Leu709Val, XP_047278437.1:p.Leu662Val, XP_047278438.1:p.Leu648Val, XP_047278439.1:p.Leu695Val

                        12.

                        rs1478355105 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          8:104244982 (GRCh38)
                          8:105257210 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:104244981:T:C
                          Gene:
                          RIMS2 (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000031/1 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.104244982T>C, NC_000008.10:g.105257210T>C, NG_053027.1:g.749957T>C, NM_014677.5:c.2843T>C, NM_014677.4:c.2843T>C, NM_001100117.3:c.3401T>C, NM_001100117.2:c.3401T>C, NM_001348484.3:c.4175T>C, NM_001348484.2:c.4175T>C, NM_001348484.1:c.4175T>C, NM_001348489.2:c.4001T>C, NM_001348489.1:c.4001T>C, NM_001348490.2:c.3914T>C, NM_001348490.1:c.3914T>C, NR_145710.2:n.4109T>C, NR_145710.1:n.3971T>C, NM_001348491.2:c.3614T>C, NM_001348491.1:c.3614T>C, NM_001348486.2:c.3572T>C, NM_001348486.1:c.3572T>C, NM_001348494.2:c.3560T>C, NM_001348494.1:c.3560T>C, NM_001348488.2:c.3485T>C, NM_001348488.1:c.3485T>C, NM_001348509.2:c.3422T>C, NM_001348509.1:c.3422T>C, NM_001348487.2:c.3431T>C, NM_001348487.1:c.3431T>C, NM_001348495.2:c.3428T>C, NM_001348495.1:c.3428T>C, NM_001348492.2:c.3398T>C, NM_001348492.1:c.3398T>C, NM_001348496.2:c.3365T>C, NM_001348496.1:c.3365T>C, NM_001348493.2:c.3353T>C, NM_001348493.1:c.3353T>C, NM_001348497.2:c.3347T>C, NM_001348497.1:c.3347T>C, NM_001348503.2:c.3326T>C, NM_001348503.1:c.3326T>C, NM_001348498.2:c.3326T>C, NM_001348498.1:c.3326T>C, NM_001348501.2:c.3179T>C, NM_001348501.1:c.3179T>C, NM_001348485.2:c.3173T>C, NM_001348485.1:c.3173T>C, NM_001348505.2:c.2984T>C, NM_001348505.1:c.2984T>C, NM_001282881.2:c.2918T>C, NM_001282881.1:c.2918T>C, NM_001348499.2:c.2909T>C, NM_001348499.1:c.2909T>C, NM_001348507.2:c.2825T>C, NM_001348507.1:c.2825T>C, NM_001348508.2:c.2810T>C, NM_001348508.1:c.2810T>C, NM_001348506.2:c.2777T>C, NM_001348506.1:c.2777T>C, NR_145711.2:n.3019T>C, NR_145711.1:n.3051T>C, NM_001348504.2:c.2678T>C, NM_001348504.1:c.2678T>C, NM_001348500.2:c.2663T>C, NM_001348500.1:c.2663T>C, NM_001348502.2:c.2597T>C, NM_001348502.1:c.2597T>C, NM_001282882.2:c.209T>C, NM_001282882.1:c.209T>C, NM_001395654.1:c.4034T>C, NM_001395652.1:c.4028T>C, NM_001395653.1:c.3887T>C, XM_011517395.4:c.4484T>C, XM_011517395.3:c.4484T>C, XM_011517395.2:c.4484T>C, XM_011517395.1:c.4484T>C, XM_005251106.4:c.4076T>C, XM_005251106.3:c.4076T>C, XM_005251106.2:c.4076T>C, XM_005251106.1:c.4076T>C, XM_005251107.4:c.4010T>C, XM_005251107.3:c.4010T>C, XM_005251107.2:c.4010T>C, XM_005251107.1:c.4010T>C, XM_006716698.4:c.293T>C, XM_006716698.3:c.293T>C, XM_006716698.2:c.293T>C, XM_006716698.1:c.293T>C, XM_017014006.3:c.4469T>C, XM_017014006.2:c.4469T>C, XM_017014006.1:c.4469T>C, XM_017014008.3:c.4370T>C, XM_017014008.2:c.4370T>C, XM_017014008.1:c.4370T>C, XM_017014009.3:c.4265T>C, XM_017014009.2:c.4265T>C, XM_017014009.1:c.4265T>C, XM_017014010.3:c.4229T>C, XM_017014010.2:c.4229T>C, XM_017014010.1:c.4229T>C, XM_017014011.3:c.4217T>C, XM_017014011.2:c.4217T>C, XM_017014011.1:c.4217T>C, XM_017014012.3:c.4184T>C, XM_017014012.2:c.4184T>C, XM_017014012.1:c.4184T>C, XM_017014015.3:c.4091T>C, XM_017014015.2:c.4091T>C, XM_017014015.1:c.4091T>C, XM_017014016.3:c.4076T>C, XM_017014016.2:c.4076T>C, XM_017014016.1:c.4076T>C, XM_017014014.2:c.4121T>C, XM_017014014.1:c.4121T>C, XM_017014022.2:c.3785T>C, XM_017014022.1:c.3785T>C, XM_017014036.2:c.3425T>C, XM_017014036.1:c.3425T>C, XM_047422468.1:c.4436T>C, XM_047422469.1:c.4394T>C, XM_047422470.1:c.4352T>C, XM_047422471.1:c.4337T>C, XM_047422472.1:c.4304T>C, XM_047422473.1:c.4295T>C, XM_047422474.1:c.4262T>C, XM_047422475.1:c.4211T>C, XM_047422476.1:c.4196T>C, XM_047422477.1:c.4163T>C, XM_047422478.1:c.4130T>C, XM_047422479.1:c.4124T>C, XM_047422480.1:c.4052T>C, XM_047422481.1:c.3911T>C, XM_047422482.1:c.3869T>C, XM_047422483.1:c.3494T>C, NP_055492.3:p.Met948Thr, NP_001093587.1:p.Met1134Thr, NP_001335413.1:p.Met1392Thr, NP_001335418.1:p.Met1334Thr, NP_001335419.1:p.Met1305Thr, NP_001335420.1:p.Met1205Thr, NP_001335415.1:p.Met1191Thr, NP_001335423.1:p.Met1187Thr, NP_001335417.1:p.Met1162Thr, NP_001335438.1:p.Met1141Thr, NP_001335416.1:p.Met1144Thr, NP_001335424.1:p.Met1143Thr, NP_001335421.1:p.Met1133Thr, NP_001335425.1:p.Met1122Thr, NP_001335422.1:p.Met1118Thr, NP_001335426.1:p.Met1116Thr, NP_001335432.1:p.Met1109Thr, NP_001335427.1:p.Met1109Thr, NP_001335430.1:p.Met1060Thr, NP_001335414.1:p.Met1058Thr, NP_001335434.1:p.Met995Thr, NP_001269810.1:p.Met973Thr, NP_001335428.1:p.Met970Thr, NP_001335436.1:p.Met942Thr, NP_001335437.1:p.Met937Thr, NP_001335435.1:p.Met926Thr, NP_001335433.1:p.Met893Thr, NP_001335429.1:p.Met888Thr, NP_001335431.1:p.Met866Thr, NP_001269811.1:p.Met70Thr, NP_001382583.1:p.Met1345Thr, NP_001382581.1:p.Met1343Thr, NP_001382582.1:p.Met1296Thr, XP_011515697.1:p.Met1495Thr, XP_005251163.1:p.Met1359Thr, XP_005251164.1:p.Met1337Thr, XP_006716761.1:p.Met98Thr, XP_016869495.1:p.Met1490Thr, XP_016869497.1:p.Met1457Thr, XP_016869498.1:p.Met1422Thr, XP_016869499.1:p.Met1410Thr, XP_016869500.1:p.Met1406Thr, XP_016869501.1:p.Met1395Thr, XP_016869504.1:p.Met1364Thr, XP_016869505.1:p.Met1359Thr, XP_016869503.1:p.Met1374Thr, XP_016869511.1:p.Met1262Thr, XP_016869525.1:p.Met1142Thr, XP_047278424.1:p.Met1479Thr, XP_047278425.1:p.Met1465Thr, XP_047278426.1:p.Met1451Thr, XP_047278427.1:p.Met1446Thr, XP_047278428.1:p.Met1435Thr, XP_047278429.1:p.Met1432Thr, XP_047278430.1:p.Met1421Thr, XP_047278431.1:p.Met1404Thr, XP_047278432.1:p.Met1399Thr, XP_047278433.1:p.Met1388Thr, XP_047278434.1:p.Met1377Thr, XP_047278435.1:p.Met1375Thr, XP_047278436.1:p.Met1351Thr, XP_047278437.1:p.Met1304Thr, XP_047278438.1:p.Met1290Thr, XP_047278439.1:p.Met1165Thr

                          13.

                          rs1477956581 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            8:103886153 (GRCh38)
                            8:104898381 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:103886152:A:C
                            Gene:
                            RIMS2 (Varview)
                            Functional Consequence:
                            missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000008.11:g.103886153A>C, NC_000008.10:g.104898381A>C, NG_053027.1:g.391128A>C, NM_014677.5:c.978A>C, NM_014677.4:c.978A>C, NM_001100117.3:c.1554A>C, NM_001100117.2:c.1554A>C, NM_001348484.3:c.1686A>C, NM_001348484.2:c.1686A>C, NM_001348484.1:c.1686A>C, NM_001348489.2:c.1554A>C, NM_001348489.1:c.1554A>C, NM_001348490.2:c.1566A>C, NM_001348490.1:c.1566A>C, NR_145710.2:n.1963A>C, NR_145710.1:n.1825A>C, NM_001348491.2:c.1674A>C, NM_001348491.1:c.1674A>C, NM_001348486.2:c.1566A>C, NM_001348486.1:c.1566A>C, NM_001348494.2:c.1554A>C, NM_001348494.1:c.1554A>C, NM_001348488.2:c.1686A>C, NM_001348488.1:c.1686A>C, NM_001348509.2:c.978A>C, NM_001348509.1:c.978A>C, NM_001348487.2:c.1566A>C, NM_001348487.1:c.1566A>C, NM_001348495.2:c.1596A>C, NM_001348495.1:c.1596A>C, NM_001348492.2:c.1566A>C, NM_001348492.1:c.1566A>C, NM_001348496.2:c.1566A>C, NM_001348496.1:c.1566A>C, NM_001348493.2:c.1554A>C, NM_001348493.1:c.1554A>C, NM_001348497.2:c.1554A>C, NM_001348497.1:c.1554A>C, NM_001348503.2:c.978A>C, NM_001348503.1:c.978A>C, NM_001348498.2:c.978A>C, NM_001348498.1:c.978A>C, NM_001348501.2:c.978A>C, NM_001348501.1:c.978A>C, NM_001348485.2:c.1554A>C, NM_001348485.1:c.1554A>C, NM_001348505.2:c.978A>C, NM_001348505.1:c.978A>C, NM_001282881.2:c.978A>C, NM_001282881.1:c.978A>C, NM_001348499.2:c.978A>C, NM_001348499.1:c.978A>C, NM_001348507.2:c.978A>C, NM_001348507.1:c.978A>C, NM_001348508.2:c.978A>C, NM_001348508.1:c.978A>C, NM_001348506.2:c.978A>C, NM_001348506.1:c.978A>C, NR_145711.2:n.1266A>C, NR_145711.1:n.1298A>C, NM_001348504.2:c.978A>C, NM_001348504.1:c.978A>C, NM_001348500.2:c.978A>C, NM_001348500.1:c.978A>C, NM_001348502.2:c.978A>C, NM_001348502.1:c.978A>C, NM_001395654.1:c.1686A>C, NM_001395652.1:c.1566A>C, NM_001395653.1:c.1686A>C, XM_011517395.4:c.1728A>C, XM_011517395.3:c.1728A>C, XM_011517395.2:c.1728A>C, XM_011517395.1:c.1728A>C, XM_005251106.4:c.1554A>C, XM_005251106.3:c.1554A>C, XM_005251106.2:c.1554A>C, XM_005251106.1:c.1554A>C, XM_005251107.4:c.1554A>C, XM_005251107.3:c.1554A>C, XM_005251107.2:c.1554A>C, XM_005251107.1:c.1554A>C, XM_017014006.3:c.1728A>C, XM_017014006.2:c.1728A>C, XM_017014006.1:c.1728A>C, XM_017014008.3:c.1728A>C, XM_017014008.2:c.1728A>C, XM_017014008.1:c.1728A>C, XM_017014009.3:c.1728A>C, XM_017014009.2:c.1728A>C, XM_017014009.1:c.1728A>C, XM_017014010.3:c.1728A>C, XM_017014010.2:c.1728A>C, XM_017014010.1:c.1728A>C, XM_017014011.3:c.1728A>C, XM_017014011.2:c.1728A>C, XM_017014011.1:c.1728A>C, XM_017014012.3:c.1728A>C, XM_017014012.2:c.1728A>C, XM_017014012.1:c.1728A>C, XM_017014015.3:c.1728A>C, XM_017014015.2:c.1728A>C, XM_017014015.1:c.1728A>C, XM_017014016.3:c.1728A>C, XM_017014016.2:c.1728A>C, XM_017014016.1:c.1728A>C, XM_017014014.2:c.1554A>C, XM_017014014.1:c.1554A>C, XM_017014022.2:c.978A>C, XM_017014022.1:c.978A>C, XM_017014036.2:c.978A>C, XM_017014036.1:c.978A>C, XM_047422468.1:c.1728A>C, XM_047422469.1:c.1686A>C, XM_047422470.1:c.1596A>C, XM_047422471.1:c.1596A>C, XM_047422472.1:c.1596A>C, XM_047422473.1:c.1728A>C, XM_047422474.1:c.1554A>C, XM_047422475.1:c.1596A>C, XM_047422476.1:c.1596A>C, XM_047422477.1:c.1596A>C, XM_047422478.1:c.1554A>C, XM_047422479.1:c.1596A>C, XM_047422480.1:c.1596A>C, XM_047422481.1:c.1596A>C, XM_047422482.1:c.1554A>C, XM_047422483.1:c.1554A>C, NP_055492.3:p.Glu326Asp, NP_001093587.1:p.Glu518Asp, NP_001335413.1:p.Glu562Asp, NP_001335418.1:p.Glu518Asp, NP_001335419.1:p.Glu522Asp, NP_001335420.1:p.Glu558Asp, NP_001335415.1:p.Glu522Asp, NP_001335423.1:p.Glu518Asp, NP_001335417.1:p.Glu562Asp, NP_001335438.1:p.Glu326Asp, NP_001335416.1:p.Glu522Asp, NP_001335424.1:p.Glu532Asp, NP_001335421.1:p.Glu522Asp, NP_001335425.1:p.Glu522Asp, NP_001335422.1:p.Glu518Asp, NP_001335426.1:p.Glu518Asp, NP_001335432.1:p.Glu326Asp, NP_001335427.1:p.Glu326Asp, NP_001335430.1:p.Glu326Asp, NP_001335414.1:p.Glu518Asp, NP_001335434.1:p.Glu326Asp, NP_001269810.1:p.Glu326Asp, NP_001335428.1:p.Glu326Asp, NP_001335436.1:p.Glu326Asp, NP_001335437.1:p.Glu326Asp, NP_001335435.1:p.Glu326Asp, NP_001335433.1:p.Glu326Asp, NP_001335429.1:p.Glu326Asp, NP_001335431.1:p.Glu326Asp, NP_001382583.1:p.Glu562Asp, NP_001382581.1:p.Glu522Asp, NP_001382582.1:p.Glu562Asp, XP_011515697.1:p.Glu576Asp, XP_005251163.1:p.Glu518Asp, XP_005251164.1:p.Glu518Asp, XP_016869495.1:p.Glu576Asp, XP_016869497.1:p.Glu576Asp, XP_016869498.1:p.Glu576Asp, XP_016869499.1:p.Glu576Asp, XP_016869500.1:p.Glu576Asp, XP_016869501.1:p.Glu576Asp, XP_016869504.1:p.Glu576Asp, XP_016869505.1:p.Glu576Asp, XP_016869503.1:p.Glu518Asp, XP_016869511.1:p.Glu326Asp, XP_016869525.1:p.Glu326Asp, XP_047278424.1:p.Glu576Asp, XP_047278425.1:p.Glu562Asp, XP_047278426.1:p.Glu532Asp, XP_047278427.1:p.Glu532Asp, XP_047278428.1:p.Glu532Asp, XP_047278429.1:p.Glu576Asp, XP_047278430.1:p.Glu518Asp, XP_047278431.1:p.Glu532Asp, XP_047278432.1:p.Glu532Asp, XP_047278433.1:p.Glu532Asp, XP_047278434.1:p.Glu518Asp, XP_047278435.1:p.Glu532Asp, XP_047278436.1:p.Glu532Asp, XP_047278437.1:p.Glu532Asp, XP_047278438.1:p.Glu518Asp, XP_047278439.1:p.Glu518Asp

                            14.

                            rs1477558069 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              8:103989385 (GRCh38)
                              8:105001613 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:103989384:G:C
                              Gene:
                              RIMS2 (Varview)
                              Functional Consequence:
                              missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000008.11:g.103989385G>C, NC_000008.10:g.105001613G>C, NG_053027.1:g.494360G>C, NM_014677.5:c.2384G>C, NM_014677.4:c.2384G>C, NM_001100117.3:c.3008G>C, NM_001100117.2:c.3008G>C, NM_001348484.3:c.3233G>C, NM_001348484.2:c.3233G>C, NM_001348484.1:c.3233G>C, NM_001348489.2:c.2960G>C, NM_001348489.1:c.2960G>C, NM_001348490.2:c.2972G>C, NM_001348490.1:c.2972G>C, NR_145710.2:n.3574G>C, NR_145710.1:n.3436G>C, NM_001348491.2:c.3221G>C, NM_001348491.1:c.3221G>C, NM_001348486.2:c.3113G>C, NM_001348486.1:c.3113G>C, NM_001348494.2:c.3101G>C, NM_001348494.1:c.3101G>C, NM_001348488.2:c.3092G>C, NM_001348488.1:c.3092G>C, NM_001348509.2:c.2384G>C, NM_001348509.1:c.2384G>C, NM_001348487.2:c.2972G>C, NM_001348487.1:c.2972G>C, NM_001348495.2:c.3002G>C, NM_001348495.1:c.3002G>C, NM_001348492.2:c.2972G>C, NM_001348492.1:c.2972G>C, NM_001348496.2:c.2972G>C, NM_001348496.1:c.2972G>C, NM_001348493.2:c.2960G>C, NM_001348493.1:c.2960G>C, NM_001348497.2:c.3101G>C, NM_001348497.1:c.3101G>C, NM_001348503.2:c.2384G>C, NM_001348503.1:c.2384G>C, NM_001348498.2:c.2384G>C, NM_001348498.1:c.2384G>C, NM_001348501.2:c.2384G>C, NM_001348501.1:c.2384G>C, NM_001348485.2:c.2960G>C, NM_001348485.1:c.2960G>C, NM_001348505.2:c.2525G>C, NM_001348505.1:c.2525G>C, NM_001282881.2:c.2525G>C, NM_001282881.1:c.2525G>C, NM_001348499.2:c.2384G>C, NM_001348499.1:c.2384G>C, NM_001348507.2:c.2432G>C, NM_001348507.1:c.2432G>C, NM_001348508.2:c.2384G>C, NM_001348508.1:c.2384G>C, NM_001348506.2:c.2384G>C, NM_001348506.1:c.2384G>C, NR_145711.2:n.2672G>C, NR_145711.1:n.2704G>C, NM_001348504.2:c.2432G>C, NM_001348504.1:c.2432G>C, NM_001348500.2:c.2384G>C, NM_001348500.1:c.2384G>C, NM_001348502.2:c.2384G>C, NM_001348502.1:c.2384G>C, NM_001395654.1:c.3092G>C, NM_001395652.1:c.3020G>C, NM_001395653.1:c.3092G>C, XM_011517395.4:c.3323G>C, XM_011517395.3:c.3323G>C, XM_011517395.2:c.3323G>C, XM_011517395.1:c.3323G>C, XM_005251106.4:c.3101G>C, XM_005251106.3:c.3101G>C, XM_005251106.2:c.3101G>C, XM_005251106.1:c.3101G>C, XM_005251107.4:c.3101G>C, XM_005251107.3:c.3101G>C, XM_005251107.2:c.3101G>C, XM_005251107.1:c.3101G>C, XM_017014006.3:c.3275G>C, XM_017014006.2:c.3275G>C, XM_017014006.1:c.3275G>C, XM_017014008.3:c.3323G>C, XM_017014008.2:c.3323G>C, XM_017014008.1:c.3323G>C, XM_017014009.3:c.3323G>C, XM_017014009.2:c.3323G>C, XM_017014009.1:c.3323G>C, XM_017014010.3:c.3182G>C, XM_017014010.2:c.3182G>C, XM_017014010.1:c.3182G>C, XM_017014011.3:c.3275G>C, XM_017014011.2:c.3275G>C, XM_017014011.1:c.3275G>C, XM_017014012.3:c.3275G>C, XM_017014012.2:c.3275G>C, XM_017014012.1:c.3275G>C, XM_017014015.3:c.3182G>C, XM_017014015.2:c.3182G>C, XM_017014015.1:c.3182G>C, XM_017014016.3:c.3134G>C, XM_017014016.2:c.3134G>C, XM_017014016.1:c.3134G>C, XM_017014014.2:c.2960G>C, XM_017014014.1:c.2960G>C, XM_017014022.2:c.2525G>C, XM_017014022.1:c.2525G>C, XM_017014036.2:c.2384G>C, XM_017014036.1:c.2384G>C, XM_047422468.1:c.3275G>C, XM_047422469.1:c.3233G>C, XM_047422470.1:c.3191G>C, XM_047422471.1:c.3143G>C, XM_047422472.1:c.3143G>C, XM_047422473.1:c.3134G>C, XM_047422474.1:c.3101G>C, XM_047422475.1:c.3050G>C, XM_047422476.1:c.3002G>C, XM_047422477.1:c.3002G>C, XM_047422478.1:c.3149G>C, XM_047422479.1:c.3143G>C, XM_047422480.1:c.3143G>C, XM_047422481.1:c.3002G>C, XM_047422482.1:c.2960G>C, XM_047422483.1:c.3101G>C, NP_055492.3:p.Arg795Pro, NP_001093587.1:p.Arg1003Pro, NP_001335413.1:p.Arg1078Pro, NP_001335418.1:p.Arg987Pro, NP_001335419.1:p.Arg991Pro, NP_001335420.1:p.Arg1074Pro, NP_001335415.1:p.Arg1038Pro, NP_001335423.1:p.Arg1034Pro, NP_001335417.1:p.Arg1031Pro, NP_001335438.1:p.Arg795Pro, NP_001335416.1:p.Arg991Pro, NP_001335424.1:p.Arg1001Pro, NP_001335421.1:p.Arg991Pro, NP_001335425.1:p.Arg991Pro, NP_001335422.1:p.Arg987Pro, NP_001335426.1:p.Arg1034Pro, NP_001335432.1:p.Arg795Pro, NP_001335427.1:p.Arg795Pro, NP_001335430.1:p.Arg795Pro, NP_001335414.1:p.Arg987Pro, NP_001335434.1:p.Arg842Pro, NP_001269810.1:p.Arg842Pro, NP_001335428.1:p.Arg795Pro, NP_001335436.1:p.Arg811Pro, NP_001335437.1:p.Arg795Pro, NP_001335435.1:p.Arg795Pro, NP_001335433.1:p.Arg811Pro, NP_001335429.1:p.Arg795Pro, NP_001335431.1:p.Arg795Pro, NP_001382583.1:p.Arg1031Pro, NP_001382581.1:p.Arg1007Pro, NP_001382582.1:p.Arg1031Pro, XP_011515697.1:p.Arg1108Pro, XP_005251163.1:p.Arg1034Pro, XP_005251164.1:p.Arg1034Pro, XP_016869495.1:p.Arg1092Pro, XP_016869497.1:p.Arg1108Pro, XP_016869498.1:p.Arg1108Pro, XP_016869499.1:p.Arg1061Pro, XP_016869500.1:p.Arg1092Pro, XP_016869501.1:p.Arg1092Pro, XP_016869504.1:p.Arg1061Pro, XP_016869505.1:p.Arg1045Pro, XP_016869503.1:p.Arg987Pro, XP_016869511.1:p.Arg842Pro, XP_016869525.1:p.Arg795Pro, XP_047278424.1:p.Arg1092Pro, XP_047278425.1:p.Arg1078Pro, XP_047278426.1:p.Arg1064Pro, XP_047278427.1:p.Arg1048Pro, XP_047278428.1:p.Arg1048Pro, XP_047278429.1:p.Arg1045Pro, XP_047278430.1:p.Arg1034Pro, XP_047278431.1:p.Arg1017Pro, XP_047278432.1:p.Arg1001Pro, XP_047278433.1:p.Arg1001Pro, XP_047278434.1:p.Arg1050Pro, XP_047278435.1:p.Arg1048Pro, XP_047278436.1:p.Arg1048Pro, XP_047278437.1:p.Arg1001Pro, XP_047278438.1:p.Arg987Pro, XP_047278439.1:p.Arg1034Pro

                              15.

                              rs1476173799 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                8:103975416 (GRCh38)
                                8:104987644 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:103975415:C:T
                                Gene:
                                RIMS2 (Varview)
                                Functional Consequence:
                                missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000008.11:g.103975416C>T, NC_000008.10:g.104987644C>T, NG_053027.1:g.480391C>T, NM_014677.5:c.2213C>T, NM_014677.4:c.2213C>T, NM_001100117.3:c.2837C>T, NM_001100117.2:c.2837C>T, NM_001348484.3:c.3062C>T, NM_001348484.2:c.3062C>T, NM_001348484.1:c.3062C>T, NM_001348489.2:c.2789C>T, NM_001348489.1:c.2789C>T, NM_001348490.2:c.2801C>T, NM_001348490.1:c.2801C>T, NR_145710.2:n.3403C>T, NR_145710.1:n.3265C>T, NM_001348491.2:c.3050C>T, NM_001348491.1:c.3050C>T, NM_001348486.2:c.2942C>T, NM_001348486.1:c.2942C>T, NM_001348494.2:c.2930C>T, NM_001348494.1:c.2930C>T, NM_001348488.2:c.2921C>T, NM_001348488.1:c.2921C>T, NM_001348509.2:c.2213C>T, NM_001348509.1:c.2213C>T, NM_001348487.2:c.2801C>T, NM_001348487.1:c.2801C>T, NM_001348495.2:c.2831C>T, NM_001348495.1:c.2831C>T, NM_001348492.2:c.2801C>T, NM_001348492.1:c.2801C>T, NM_001348496.2:c.2801C>T, NM_001348496.1:c.2801C>T, NM_001348493.2:c.2789C>T, NM_001348493.1:c.2789C>T, NM_001348497.2:c.2930C>T, NM_001348497.1:c.2930C>T, NM_001348503.2:c.2213C>T, NM_001348503.1:c.2213C>T, NM_001348498.2:c.2213C>T, NM_001348498.1:c.2213C>T, NM_001348501.2:c.2213C>T, NM_001348501.1:c.2213C>T, NM_001348485.2:c.2789C>T, NM_001348485.1:c.2789C>T, NM_001348505.2:c.2354C>T, NM_001348505.1:c.2354C>T, NM_001282881.2:c.2354C>T, NM_001282881.1:c.2354C>T, NM_001348499.2:c.2213C>T, NM_001348499.1:c.2213C>T, NM_001348507.2:c.2261C>T, NM_001348507.1:c.2261C>T, NM_001348508.2:c.2213C>T, NM_001348508.1:c.2213C>T, NM_001348506.2:c.2213C>T, NM_001348506.1:c.2213C>T, NR_145711.2:n.2501C>T, NR_145711.1:n.2533C>T, NM_001348504.2:c.2261C>T, NM_001348504.1:c.2261C>T, NM_001348500.2:c.2213C>T, NM_001348500.1:c.2213C>T, NM_001348502.2:c.2213C>T, NM_001348502.1:c.2213C>T, NM_001395654.1:c.2921C>T, NM_001395652.1:c.2849C>T, NM_001395653.1:c.2921C>T, XM_011517395.4:c.3152C>T, XM_011517395.3:c.3152C>T, XM_011517395.2:c.3152C>T, XM_011517395.1:c.3152C>T, XM_005251106.4:c.2930C>T, XM_005251106.3:c.2930C>T, XM_005251106.2:c.2930C>T, XM_005251106.1:c.2930C>T, XM_005251107.4:c.2930C>T, XM_005251107.3:c.2930C>T, XM_005251107.2:c.2930C>T, XM_005251107.1:c.2930C>T, XM_017014006.3:c.3104C>T, XM_017014006.2:c.3104C>T, XM_017014006.1:c.3104C>T, XM_017014008.3:c.3152C>T, XM_017014008.2:c.3152C>T, XM_017014008.1:c.3152C>T, XM_017014009.3:c.3152C>T, XM_017014009.2:c.3152C>T, XM_017014009.1:c.3152C>T, XM_017014010.3:c.3011C>T, XM_017014010.2:c.3011C>T, XM_017014010.1:c.3011C>T, XM_017014011.3:c.3104C>T, XM_017014011.2:c.3104C>T, XM_017014011.1:c.3104C>T, XM_017014012.3:c.3104C>T, XM_017014012.2:c.3104C>T, XM_017014012.1:c.3104C>T, XM_017014015.3:c.3011C>T, XM_017014015.2:c.3011C>T, XM_017014015.1:c.3011C>T, XM_017014016.3:c.2963C>T, XM_017014016.2:c.2963C>T, XM_017014016.1:c.2963C>T, XM_017014014.2:c.2789C>T, XM_017014014.1:c.2789C>T, XM_017014022.2:c.2354C>T, XM_017014022.1:c.2354C>T, XM_017014036.2:c.2213C>T, XM_017014036.1:c.2213C>T, XM_047422468.1:c.3104C>T, XM_047422469.1:c.3062C>T, XM_047422470.1:c.3020C>T, XM_047422471.1:c.2972C>T, XM_047422472.1:c.2972C>T, XM_047422473.1:c.2963C>T, XM_047422474.1:c.2930C>T, XM_047422475.1:c.2879C>T, XM_047422476.1:c.2831C>T, XM_047422477.1:c.2831C>T, XM_047422478.1:c.2978C>T, XM_047422479.1:c.2972C>T, XM_047422480.1:c.2972C>T, XM_047422481.1:c.2831C>T, XM_047422482.1:c.2789C>T, XM_047422483.1:c.2930C>T, NP_055492.3:p.Ser738Leu, NP_001093587.1:p.Ser946Leu, NP_001335413.1:p.Ser1021Leu, NP_001335418.1:p.Ser930Leu, NP_001335419.1:p.Ser934Leu, NP_001335420.1:p.Ser1017Leu, NP_001335415.1:p.Ser981Leu, NP_001335423.1:p.Ser977Leu, NP_001335417.1:p.Ser974Leu, NP_001335438.1:p.Ser738Leu, NP_001335416.1:p.Ser934Leu, NP_001335424.1:p.Ser944Leu, NP_001335421.1:p.Ser934Leu, NP_001335425.1:p.Ser934Leu, NP_001335422.1:p.Ser930Leu, NP_001335426.1:p.Ser977Leu, NP_001335432.1:p.Ser738Leu, NP_001335427.1:p.Ser738Leu, NP_001335430.1:p.Ser738Leu, NP_001335414.1:p.Ser930Leu, NP_001335434.1:p.Ser785Leu, NP_001269810.1:p.Ser785Leu, NP_001335428.1:p.Ser738Leu, NP_001335436.1:p.Ser754Leu, NP_001335437.1:p.Ser738Leu, NP_001335435.1:p.Ser738Leu, NP_001335433.1:p.Ser754Leu, NP_001335429.1:p.Ser738Leu, NP_001335431.1:p.Ser738Leu, NP_001382583.1:p.Ser974Leu, NP_001382581.1:p.Ser950Leu, NP_001382582.1:p.Ser974Leu, XP_011515697.1:p.Ser1051Leu, XP_005251163.1:p.Ser977Leu, XP_005251164.1:p.Ser977Leu, XP_016869495.1:p.Ser1035Leu, XP_016869497.1:p.Ser1051Leu, XP_016869498.1:p.Ser1051Leu, XP_016869499.1:p.Ser1004Leu, XP_016869500.1:p.Ser1035Leu, XP_016869501.1:p.Ser1035Leu, XP_016869504.1:p.Ser1004Leu, XP_016869505.1:p.Ser988Leu, XP_016869503.1:p.Ser930Leu, XP_016869511.1:p.Ser785Leu, XP_016869525.1:p.Ser738Leu, XP_047278424.1:p.Ser1035Leu, XP_047278425.1:p.Ser1021Leu, XP_047278426.1:p.Ser1007Leu, XP_047278427.1:p.Ser991Leu, XP_047278428.1:p.Ser991Leu, XP_047278429.1:p.Ser988Leu, XP_047278430.1:p.Ser977Leu, XP_047278431.1:p.Ser960Leu, XP_047278432.1:p.Ser944Leu, XP_047278433.1:p.Ser944Leu, XP_047278434.1:p.Ser993Leu, XP_047278435.1:p.Ser991Leu, XP_047278436.1:p.Ser991Leu, XP_047278437.1:p.Ser944Leu, XP_047278438.1:p.Ser930Leu, XP_047278439.1:p.Ser977Leu

                                16.

                                rs1475645821 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  8:104248715 (GRCh38)
                                  8:105260943 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:104248714:G:A
                                  Gene:
                                  RIMS2 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.104248715G>A, NC_000008.10:g.105260943G>A, NG_053027.1:g.753690G>A, NM_014677.5:c.2933G>A, NM_014677.4:c.2933G>A, NM_001100117.3:c.3491G>A, NM_001100117.2:c.3491G>A, NM_001348484.3:c.4265G>A, NM_001348484.2:c.4265G>A, NM_001348484.1:c.4265G>A, NM_001348489.2:c.4091G>A, NM_001348489.1:c.4091G>A, NM_001348490.2:c.4004G>A, NM_001348490.1:c.4004G>A, NR_145710.2:n.4199G>A, NR_145710.1:n.4061G>A, NM_001348491.2:c.3704G>A, NM_001348491.1:c.3704G>A, NM_001348486.2:c.3662G>A, NM_001348486.1:c.3662G>A, NM_001348494.2:c.3650G>A, NM_001348494.1:c.3650G>A, NM_001348488.2:c.3575G>A, NM_001348488.1:c.3575G>A, NM_001348509.2:c.3512G>A, NM_001348509.1:c.3512G>A, NM_001348487.2:c.3521G>A, NM_001348487.1:c.3521G>A, NM_001348495.2:c.3518G>A, NM_001348495.1:c.3518G>A, NM_001348492.2:c.3488G>A, NM_001348492.1:c.3488G>A, NM_001348496.2:c.3455G>A, NM_001348496.1:c.3455G>A, NM_001348493.2:c.3443G>A, NM_001348493.1:c.3443G>A, NM_001348497.2:c.3437G>A, NM_001348497.1:c.3437G>A, NM_001348503.2:c.3416G>A, NM_001348503.1:c.3416G>A, NM_001348498.2:c.3416G>A, NM_001348498.1:c.3416G>A, NM_001348501.2:c.3269G>A, NM_001348501.1:c.3269G>A, NM_001348485.2:c.3263G>A, NM_001348485.1:c.3263G>A, NM_001348505.2:c.3074G>A, NM_001348505.1:c.3074G>A, NM_001282881.2:c.3008G>A, NM_001282881.1:c.3008G>A, NM_001348499.2:c.2999G>A, NM_001348499.1:c.2999G>A, NM_001348507.2:c.2915G>A, NM_001348507.1:c.2915G>A, NM_001348508.2:c.2900G>A, NM_001348508.1:c.2900G>A, NM_001348506.2:c.2867G>A, NM_001348506.1:c.2867G>A, NR_145711.2:n.3109G>A, NR_145711.1:n.3141G>A, NM_001348504.2:c.2768G>A, NM_001348504.1:c.2768G>A, NM_001348500.2:c.2753G>A, NM_001348500.1:c.2753G>A, NM_001348502.2:c.2687G>A, NM_001348502.1:c.2687G>A, NM_001282882.2:c.299G>A, NM_001282882.1:c.299G>A, NM_001395654.1:c.4124G>A, NM_001395652.1:c.4118G>A, NM_001395653.1:c.3977G>A, XM_011517395.4:c.4574G>A, XM_011517395.3:c.4574G>A, XM_011517395.2:c.4574G>A, XM_011517395.1:c.4574G>A, XM_005251106.4:c.4166G>A, XM_005251106.3:c.4166G>A, XM_005251106.2:c.4166G>A, XM_005251106.1:c.4166G>A, XM_005251107.4:c.4100G>A, XM_005251107.3:c.4100G>A, XM_005251107.2:c.4100G>A, XM_005251107.1:c.4100G>A, XM_006716698.4:c.383G>A, XM_006716698.3:c.383G>A, XM_006716698.2:c.383G>A, XM_006716698.1:c.383G>A, XM_017014006.3:c.4559G>A, XM_017014006.2:c.4559G>A, XM_017014006.1:c.4559G>A, XM_017014008.3:c.4460G>A, XM_017014008.2:c.4460G>A, XM_017014008.1:c.4460G>A, XM_017014009.3:c.4355G>A, XM_017014009.2:c.4355G>A, XM_017014009.1:c.4355G>A, XM_017014010.3:c.4319G>A, XM_017014010.2:c.4319G>A, XM_017014010.1:c.4319G>A, XM_017014011.3:c.4307G>A, XM_017014011.2:c.4307G>A, XM_017014011.1:c.4307G>A, XM_017014012.3:c.4274G>A, XM_017014012.2:c.4274G>A, XM_017014012.1:c.4274G>A, XM_017014015.3:c.4181G>A, XM_017014015.2:c.4181G>A, XM_017014015.1:c.4181G>A, XM_017014016.3:c.4166G>A, XM_017014016.2:c.4166G>A, XM_017014016.1:c.4166G>A, XM_017014014.2:c.4211G>A, XM_017014014.1:c.4211G>A, XM_017014022.2:c.3875G>A, XM_017014022.1:c.3875G>A, XM_017014036.2:c.3515G>A, XM_017014036.1:c.3515G>A, XM_047422468.1:c.4526G>A, XM_047422469.1:c.4484G>A, XM_047422470.1:c.4442G>A, XM_047422471.1:c.4427G>A, XM_047422472.1:c.4394G>A, XM_047422473.1:c.4385G>A, XM_047422474.1:c.4352G>A, XM_047422475.1:c.4301G>A, XM_047422476.1:c.4286G>A, XM_047422477.1:c.4253G>A, XM_047422478.1:c.4220G>A, XM_047422479.1:c.4214G>A, XM_047422480.1:c.4142G>A, XM_047422481.1:c.4001G>A, XM_047422482.1:c.3959G>A, XM_047422483.1:c.3584G>A, NP_055492.3:p.Gly978Asp, NP_001093587.1:p.Gly1164Asp, NP_001335413.1:p.Gly1422Asp, NP_001335418.1:p.Gly1364Asp, NP_001335419.1:p.Gly1335Asp, NP_001335420.1:p.Gly1235Asp, NP_001335415.1:p.Gly1221Asp, NP_001335423.1:p.Gly1217Asp, NP_001335417.1:p.Gly1192Asp, NP_001335438.1:p.Gly1171Asp, NP_001335416.1:p.Gly1174Asp, NP_001335424.1:p.Gly1173Asp, NP_001335421.1:p.Gly1163Asp, NP_001335425.1:p.Gly1152Asp, NP_001335422.1:p.Gly1148Asp, NP_001335426.1:p.Gly1146Asp, NP_001335432.1:p.Gly1139Asp, NP_001335427.1:p.Gly1139Asp, NP_001335430.1:p.Gly1090Asp, NP_001335414.1:p.Gly1088Asp, NP_001335434.1:p.Gly1025Asp, NP_001269810.1:p.Gly1003Asp, NP_001335428.1:p.Gly1000Asp, NP_001335436.1:p.Gly972Asp, NP_001335437.1:p.Gly967Asp, NP_001335435.1:p.Gly956Asp, NP_001335433.1:p.Gly923Asp, NP_001335429.1:p.Gly918Asp, NP_001335431.1:p.Gly896Asp, NP_001269811.1:p.Gly100Asp, NP_001382583.1:p.Gly1375Asp, NP_001382581.1:p.Gly1373Asp, NP_001382582.1:p.Gly1326Asp, XP_011515697.1:p.Gly1525Asp, XP_005251163.1:p.Gly1389Asp, XP_005251164.1:p.Gly1367Asp, XP_006716761.1:p.Gly128Asp, XP_016869495.1:p.Gly1520Asp, XP_016869497.1:p.Gly1487Asp, XP_016869498.1:p.Gly1452Asp, XP_016869499.1:p.Gly1440Asp, XP_016869500.1:p.Gly1436Asp, XP_016869501.1:p.Gly1425Asp, XP_016869504.1:p.Gly1394Asp, XP_016869505.1:p.Gly1389Asp, XP_016869503.1:p.Gly1404Asp, XP_016869511.1:p.Gly1292Asp, XP_016869525.1:p.Gly1172Asp, XP_047278424.1:p.Gly1509Asp, XP_047278425.1:p.Gly1495Asp, XP_047278426.1:p.Gly1481Asp, XP_047278427.1:p.Gly1476Asp, XP_047278428.1:p.Gly1465Asp, XP_047278429.1:p.Gly1462Asp, XP_047278430.1:p.Gly1451Asp, XP_047278431.1:p.Gly1434Asp, XP_047278432.1:p.Gly1429Asp, XP_047278433.1:p.Gly1418Asp, XP_047278434.1:p.Gly1407Asp, XP_047278435.1:p.Gly1405Asp, XP_047278436.1:p.Gly1381Asp, XP_047278437.1:p.Gly1334Asp, XP_047278438.1:p.Gly1320Asp, XP_047278439.1:p.Gly1195Asp

                                  17.

                                  rs1475536106 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    8:104251621 (GRCh38)
                                    8:105263849 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:104251620:A:T
                                    Gene:
                                    RIMS2 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000008.11:g.104251621A>T, NC_000008.10:g.105263849A>T, NG_053027.1:g.756596A>T, NM_014677.5:c.3293A>T, NM_014677.4:c.3293A>T, NM_001100117.3:c.3851A>T, NM_001100117.2:c.3851A>T, NM_001348484.3:c.4625A>T, NM_001348484.2:c.4625A>T, NM_001348484.1:c.4625A>T, NM_001348489.2:c.4451A>T, NM_001348489.1:c.4451A>T, NM_001348490.2:c.4364A>T, NM_001348490.1:c.4364A>T, NR_145710.2:n.4559A>T, NR_145710.1:n.4421A>T, NM_001348491.2:c.4064A>T, NM_001348491.1:c.4064A>T, NM_001348486.2:c.4022A>T, NM_001348486.1:c.4022A>T, NM_001348494.2:c.4010A>T, NM_001348494.1:c.4010A>T, NM_001348488.2:c.3935A>T, NM_001348488.1:c.3935A>T, NM_001348509.2:c.3872A>T, NM_001348509.1:c.3872A>T, NM_001348487.2:c.3881A>T, NM_001348487.1:c.3881A>T, NM_001348495.2:c.3878A>T, NM_001348495.1:c.3878A>T, NM_001348492.2:c.3848A>T, NM_001348492.1:c.3848A>T, NM_001348496.2:c.3815A>T, NM_001348496.1:c.3815A>T, NM_001348493.2:c.3803A>T, NM_001348493.1:c.3803A>T, NM_001348497.2:c.3797A>T, NM_001348497.1:c.3797A>T, NM_001348503.2:c.3776A>T, NM_001348503.1:c.3776A>T, NM_001348498.2:c.3776A>T, NM_001348498.1:c.3776A>T, NM_001348501.2:c.3629A>T, NM_001348501.1:c.3629A>T, NM_001348485.2:c.3623A>T, NM_001348485.1:c.3623A>T, NM_001348505.2:c.3434A>T, NM_001348505.1:c.3434A>T, NM_001282881.2:c.3368A>T, NM_001282881.1:c.3368A>T, NM_001348499.2:c.3359A>T, NM_001348499.1:c.3359A>T, NM_001348507.2:c.3275A>T, NM_001348507.1:c.3275A>T, NM_001348508.2:c.3260A>T, NM_001348508.1:c.3260A>T, NM_001348506.2:c.3227A>T, NM_001348506.1:c.3227A>T, NR_145711.2:n.3469A>T, NR_145711.1:n.3501A>T, NM_001348504.2:c.3128A>T, NM_001348504.1:c.3128A>T, NM_001348500.2:c.3113A>T, NM_001348500.1:c.3113A>T, NM_001348502.2:c.3047A>T, NM_001348502.1:c.3047A>T, NM_001282882.2:c.659A>T, NM_001282882.1:c.659A>T, NM_001395654.1:c.4484A>T, NM_001395652.1:c.4478A>T, NM_001395653.1:c.4337A>T, XM_011517395.4:c.4934A>T, XM_011517395.3:c.4934A>T, XM_011517395.2:c.4934A>T, XM_011517395.1:c.4934A>T, XM_005251106.4:c.4526A>T, XM_005251106.3:c.4526A>T, XM_005251106.2:c.4526A>T, XM_005251106.1:c.4526A>T, XM_005251107.4:c.4460A>T, XM_005251107.3:c.4460A>T, XM_005251107.2:c.4460A>T, XM_005251107.1:c.4460A>T, XM_006716698.4:c.743A>T, XM_006716698.3:c.743A>T, XM_006716698.2:c.743A>T, XM_006716698.1:c.743A>T, XM_017014006.3:c.4919A>T, XM_017014006.2:c.4919A>T, XM_017014006.1:c.4919A>T, XM_017014008.3:c.4820A>T, XM_017014008.2:c.4820A>T, XM_017014008.1:c.4820A>T, XM_017014009.3:c.4715A>T, XM_017014009.2:c.4715A>T, XM_017014009.1:c.4715A>T, XM_017014010.3:c.4679A>T, XM_017014010.2:c.4679A>T, XM_017014010.1:c.4679A>T, XM_017014011.3:c.4667A>T, XM_017014011.2:c.4667A>T, XM_017014011.1:c.4667A>T, XM_017014012.3:c.4634A>T, XM_017014012.2:c.4634A>T, XM_017014012.1:c.4634A>T, XM_017014015.3:c.4541A>T, XM_017014015.2:c.4541A>T, XM_017014015.1:c.4541A>T, XM_017014016.3:c.4526A>T, XM_017014016.2:c.4526A>T, XM_017014016.1:c.4526A>T, XM_017014014.2:c.4571A>T, XM_017014014.1:c.4571A>T, XM_017014022.2:c.4235A>T, XM_017014022.1:c.4235A>T, XM_017014036.2:c.3875A>T, XM_017014036.1:c.3875A>T, XM_047422468.1:c.4886A>T, XM_047422469.1:c.4844A>T, XM_047422470.1:c.4802A>T, XM_047422471.1:c.4787A>T, XM_047422472.1:c.4754A>T, XM_047422473.1:c.4745A>T, XM_047422474.1:c.4712A>T, XM_047422475.1:c.4661A>T, XM_047422476.1:c.4646A>T, XM_047422477.1:c.4613A>T, XM_047422478.1:c.4580A>T, XM_047422479.1:c.4574A>T, XM_047422480.1:c.4502A>T, XM_047422481.1:c.4361A>T, XM_047422482.1:c.4319A>T, XM_047422483.1:c.3944A>T, NP_055492.3:p.Tyr1098Phe, NP_001093587.1:p.Tyr1284Phe, NP_001335413.1:p.Tyr1542Phe, NP_001335418.1:p.Tyr1484Phe, NP_001335419.1:p.Tyr1455Phe, NP_001335420.1:p.Tyr1355Phe, NP_001335415.1:p.Tyr1341Phe, NP_001335423.1:p.Tyr1337Phe, NP_001335417.1:p.Tyr1312Phe, NP_001335438.1:p.Tyr1291Phe, NP_001335416.1:p.Tyr1294Phe, NP_001335424.1:p.Tyr1293Phe, NP_001335421.1:p.Tyr1283Phe, NP_001335425.1:p.Tyr1272Phe, NP_001335422.1:p.Tyr1268Phe, NP_001335426.1:p.Tyr1266Phe, NP_001335432.1:p.Tyr1259Phe, NP_001335427.1:p.Tyr1259Phe, NP_001335430.1:p.Tyr1210Phe, NP_001335414.1:p.Tyr1208Phe, NP_001335434.1:p.Tyr1145Phe, NP_001269810.1:p.Tyr1123Phe, NP_001335428.1:p.Tyr1120Phe, NP_001335436.1:p.Tyr1092Phe, NP_001335437.1:p.Tyr1087Phe, NP_001335435.1:p.Tyr1076Phe, NP_001335433.1:p.Tyr1043Phe, NP_001335429.1:p.Tyr1038Phe, NP_001335431.1:p.Tyr1016Phe, NP_001269811.1:p.Tyr220Phe, NP_001382583.1:p.Tyr1495Phe, NP_001382581.1:p.Tyr1493Phe, NP_001382582.1:p.Tyr1446Phe, XP_011515697.1:p.Tyr1645Phe, XP_005251163.1:p.Tyr1509Phe, XP_005251164.1:p.Tyr1487Phe, XP_006716761.1:p.Tyr248Phe, XP_016869495.1:p.Tyr1640Phe, XP_016869497.1:p.Tyr1607Phe, XP_016869498.1:p.Tyr1572Phe, XP_016869499.1:p.Tyr1560Phe, XP_016869500.1:p.Tyr1556Phe, XP_016869501.1:p.Tyr1545Phe, XP_016869504.1:p.Tyr1514Phe, XP_016869505.1:p.Tyr1509Phe, XP_016869503.1:p.Tyr1524Phe, XP_016869511.1:p.Tyr1412Phe, XP_016869525.1:p.Tyr1292Phe, XP_047278424.1:p.Tyr1629Phe, XP_047278425.1:p.Tyr1615Phe, XP_047278426.1:p.Tyr1601Phe, XP_047278427.1:p.Tyr1596Phe, XP_047278428.1:p.Tyr1585Phe, XP_047278429.1:p.Tyr1582Phe, XP_047278430.1:p.Tyr1571Phe, XP_047278431.1:p.Tyr1554Phe, XP_047278432.1:p.Tyr1549Phe, XP_047278433.1:p.Tyr1538Phe, XP_047278434.1:p.Tyr1527Phe, XP_047278435.1:p.Tyr1525Phe, XP_047278436.1:p.Tyr1501Phe, XP_047278437.1:p.Tyr1454Phe, XP_047278438.1:p.Tyr1440Phe, XP_047278439.1:p.Tyr1315Phe

                                    18.

                                    rs1475399569 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      8:103915588 (GRCh38)
                                      8:104927816 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:103915587:A:G
                                      Gene:
                                      RIMS2 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000008.11:g.103915588A>G, NC_000008.10:g.104927816A>G, NG_053027.1:g.420563A>G, NM_014677.5:c.1330A>G, NM_014677.4:c.1330A>G, NM_001100117.3:c.1906A>G, NM_001100117.2:c.1906A>G, NM_001348484.3:c.2179A>G, NM_001348484.2:c.2179A>G, NM_001348484.1:c.2179A>G, NM_001348489.2:c.1906A>G, NM_001348489.1:c.1906A>G, NM_001348490.2:c.1918A>G, NM_001348490.1:c.1918A>G, NR_145710.2:n.2315A>G, NR_145710.1:n.2177A>G, NM_001348491.2:c.2167A>G, NM_001348491.1:c.2167A>G, NM_001348486.2:c.2059A>G, NM_001348486.1:c.2059A>G, NM_001348494.2:c.2047A>G, NM_001348494.1:c.2047A>G, NM_001348488.2:c.2038A>G, NM_001348488.1:c.2038A>G, NM_001348509.2:c.1330A>G, NM_001348509.1:c.1330A>G, NM_001348487.2:c.1918A>G, NM_001348487.1:c.1918A>G, NM_001348495.2:c.1948A>G, NM_001348495.1:c.1948A>G, NM_001348492.2:c.1918A>G, NM_001348492.1:c.1918A>G, NM_001348496.2:c.1918A>G, NM_001348496.1:c.1918A>G, NM_001348493.2:c.1906A>G, NM_001348493.1:c.1906A>G, NM_001348497.2:c.2047A>G, NM_001348497.1:c.2047A>G, NM_001348503.2:c.1330A>G, NM_001348503.1:c.1330A>G, NM_001348498.2:c.1330A>G, NM_001348498.1:c.1330A>G, NM_001348501.2:c.1330A>G, NM_001348501.1:c.1330A>G, NM_001348485.2:c.1906A>G, NM_001348485.1:c.1906A>G, NM_001348505.2:c.1471A>G, NM_001348505.1:c.1471A>G, NM_001282881.2:c.1471A>G, NM_001282881.1:c.1471A>G, NM_001348499.2:c.1330A>G, NM_001348499.1:c.1330A>G, NM_001348507.2:c.1330A>G, NM_001348507.1:c.1330A>G, NM_001348508.2:c.1330A>G, NM_001348508.1:c.1330A>G, NM_001348506.2:c.1330A>G, NM_001348506.1:c.1330A>G, NR_145711.2:n.1618A>G, NR_145711.1:n.1650A>G, NM_001348504.2:c.1330A>G, NM_001348504.1:c.1330A>G, NM_001348500.2:c.1330A>G, NM_001348500.1:c.1330A>G, NM_001348502.2:c.1330A>G, NM_001348502.1:c.1330A>G, NM_001395654.1:c.2038A>G, NM_001395652.1:c.1918A>G, NM_001395653.1:c.2038A>G, XM_011517395.4:c.2221A>G, XM_011517395.3:c.2221A>G, XM_011517395.2:c.2221A>G, XM_011517395.1:c.2221A>G, XM_005251106.4:c.2047A>G, XM_005251106.3:c.2047A>G, XM_005251106.2:c.2047A>G, XM_005251106.1:c.2047A>G, XM_005251107.4:c.2047A>G, XM_005251107.3:c.2047A>G, XM_005251107.2:c.2047A>G, XM_005251107.1:c.2047A>G, XM_017014006.3:c.2221A>G, XM_017014006.2:c.2221A>G, XM_017014006.1:c.2221A>G, XM_017014008.3:c.2221A>G, XM_017014008.2:c.2221A>G, XM_017014008.1:c.2221A>G, XM_017014009.3:c.2221A>G, XM_017014009.2:c.2221A>G, XM_017014009.1:c.2221A>G, XM_017014010.3:c.2080A>G, XM_017014010.2:c.2080A>G, XM_017014010.1:c.2080A>G, XM_017014011.3:c.2221A>G, XM_017014011.2:c.2221A>G, XM_017014011.1:c.2221A>G, XM_017014012.3:c.2221A>G, XM_017014012.2:c.2221A>G, XM_017014012.1:c.2221A>G, XM_017014015.3:c.2080A>G, XM_017014015.2:c.2080A>G, XM_017014015.1:c.2080A>G, XM_017014016.3:c.2080A>G, XM_017014016.2:c.2080A>G, XM_017014016.1:c.2080A>G, XM_017014014.2:c.1906A>G, XM_017014014.1:c.1906A>G, XM_017014022.2:c.1471A>G, XM_017014022.1:c.1471A>G, XM_017014036.2:c.1330A>G, XM_017014036.1:c.1330A>G, XM_047422468.1:c.2221A>G, XM_047422469.1:c.2179A>G, XM_047422470.1:c.2089A>G, XM_047422471.1:c.2089A>G, XM_047422472.1:c.2089A>G, XM_047422473.1:c.2080A>G, XM_047422474.1:c.2047A>G, XM_047422475.1:c.1948A>G, XM_047422476.1:c.1948A>G, XM_047422477.1:c.1948A>G, XM_047422478.1:c.2047A>G, XM_047422479.1:c.2089A>G, XM_047422480.1:c.2089A>G, XM_047422481.1:c.1948A>G, XM_047422482.1:c.1906A>G, XM_047422483.1:c.2047A>G, NP_055492.3:p.Arg444Gly, NP_001093587.1:p.Arg636Gly, NP_001335413.1:p.Arg727Gly, NP_001335418.1:p.Arg636Gly, NP_001335419.1:p.Arg640Gly, NP_001335420.1:p.Arg723Gly, NP_001335415.1:p.Arg687Gly, NP_001335423.1:p.Arg683Gly, NP_001335417.1:p.Arg680Gly, NP_001335438.1:p.Arg444Gly, NP_001335416.1:p.Arg640Gly, NP_001335424.1:p.Arg650Gly, NP_001335421.1:p.Arg640Gly, NP_001335425.1:p.Arg640Gly, NP_001335422.1:p.Arg636Gly, NP_001335426.1:p.Arg683Gly, NP_001335432.1:p.Arg444Gly, NP_001335427.1:p.Arg444Gly, NP_001335430.1:p.Arg444Gly, NP_001335414.1:p.Arg636Gly, NP_001335434.1:p.Arg491Gly, NP_001269810.1:p.Arg491Gly, NP_001335428.1:p.Arg444Gly, NP_001335436.1:p.Arg444Gly, NP_001335437.1:p.Arg444Gly, NP_001335435.1:p.Arg444Gly, NP_001335433.1:p.Arg444Gly, NP_001335429.1:p.Arg444Gly, NP_001335431.1:p.Arg444Gly, NP_001382583.1:p.Arg680Gly, NP_001382581.1:p.Arg640Gly, NP_001382582.1:p.Arg680Gly, XP_011515697.1:p.Arg741Gly, XP_005251163.1:p.Arg683Gly, XP_005251164.1:p.Arg683Gly, XP_016869495.1:p.Arg741Gly, XP_016869497.1:p.Arg741Gly, XP_016869498.1:p.Arg741Gly, XP_016869499.1:p.Arg694Gly, XP_016869500.1:p.Arg741Gly, XP_016869501.1:p.Arg741Gly, XP_016869504.1:p.Arg694Gly, XP_016869505.1:p.Arg694Gly, XP_016869503.1:p.Arg636Gly, XP_016869511.1:p.Arg491Gly, XP_016869525.1:p.Arg444Gly, XP_047278424.1:p.Arg741Gly, XP_047278425.1:p.Arg727Gly, XP_047278426.1:p.Arg697Gly, XP_047278427.1:p.Arg697Gly, XP_047278428.1:p.Arg697Gly, XP_047278429.1:p.Arg694Gly, XP_047278430.1:p.Arg683Gly, XP_047278431.1:p.Arg650Gly, XP_047278432.1:p.Arg650Gly, XP_047278433.1:p.Arg650Gly, XP_047278434.1:p.Arg683Gly, XP_047278435.1:p.Arg697Gly, XP_047278436.1:p.Arg697Gly, XP_047278437.1:p.Arg650Gly, XP_047278438.1:p.Arg636Gly, XP_047278439.1:p.Arg683Gly

                                      19.

                                      rs1472950305 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        8:103961100 (GRCh38)
                                        8:104973328 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:103961099:T:C,NC_000008.11:103961099:T:G
                                        Gene:
                                        RIMS2 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000008.11:g.103961100T>C, NC_000008.11:g.103961100T>G, NC_000008.10:g.104973328T>C, NC_000008.10:g.104973328T>G, NG_053027.1:g.466075T>C, NG_053027.1:g.466075T>G, NM_014677.5:c.2113T>C, NM_014677.5:c.2113T>G, NM_014677.4:c.2113T>C, NM_014677.4:c.2113T>G, NM_001100117.3:c.2737T>C, NM_001100117.3:c.2737T>G, NM_001100117.2:c.2737T>C, NM_001100117.2:c.2737T>G, NM_001348484.3:c.2962T>C, NM_001348484.3:c.2962T>G, NM_001348484.2:c.2962T>C, NM_001348484.2:c.2962T>G, NM_001348484.1:c.2962T>C, NM_001348484.1:c.2962T>G, NM_001348489.2:c.2689T>C, NM_001348489.2:c.2689T>G, NM_001348489.1:c.2689T>C, NM_001348489.1:c.2689T>G, NM_001348490.2:c.2701T>C, NM_001348490.2:c.2701T>G, NM_001348490.1:c.2701T>C, NM_001348490.1:c.2701T>G, NR_145710.2:n.3303T>C, NR_145710.2:n.3303T>G, NR_145710.1:n.3165T>C, NR_145710.1:n.3165T>G, NM_001348491.2:c.2950T>C, NM_001348491.2:c.2950T>G, NM_001348491.1:c.2950T>C, NM_001348491.1:c.2950T>G, NM_001348486.2:c.2842T>C, NM_001348486.2:c.2842T>G, NM_001348486.1:c.2842T>C, NM_001348486.1:c.2842T>G, NM_001348494.2:c.2830T>C, NM_001348494.2:c.2830T>G, NM_001348494.1:c.2830T>C, NM_001348494.1:c.2830T>G, NM_001348488.2:c.2821T>C, NM_001348488.2:c.2821T>G, NM_001348488.1:c.2821T>C, NM_001348488.1:c.2821T>G, NM_001348509.2:c.2113T>C, NM_001348509.2:c.2113T>G, NM_001348509.1:c.2113T>C, NM_001348509.1:c.2113T>G, NM_001348487.2:c.2701T>C, NM_001348487.2:c.2701T>G, NM_001348487.1:c.2701T>C, NM_001348487.1:c.2701T>G, NM_001348495.2:c.2731T>C, NM_001348495.2:c.2731T>G, NM_001348495.1:c.2731T>C, NM_001348495.1:c.2731T>G, NM_001348492.2:c.2701T>C, NM_001348492.2:c.2701T>G, NM_001348492.1:c.2701T>C, NM_001348492.1:c.2701T>G, NM_001348496.2:c.2701T>C, NM_001348496.2:c.2701T>G, NM_001348496.1:c.2701T>C, NM_001348496.1:c.2701T>G, NM_001348493.2:c.2689T>C, NM_001348493.2:c.2689T>G, NM_001348493.1:c.2689T>C, NM_001348493.1:c.2689T>G, NM_001348497.2:c.2830T>C, NM_001348497.2:c.2830T>G, NM_001348497.1:c.2830T>C, NM_001348497.1:c.2830T>G, NM_001348503.2:c.2113T>C, NM_001348503.2:c.2113T>G, NM_001348503.1:c.2113T>C, NM_001348503.1:c.2113T>G, NM_001348498.2:c.2113T>C, NM_001348498.2:c.2113T>G, NM_001348498.1:c.2113T>C, NM_001348498.1:c.2113T>G, NM_001348501.2:c.2113T>C, NM_001348501.2:c.2113T>G, NM_001348501.1:c.2113T>C, NM_001348501.1:c.2113T>G, NM_001348485.2:c.2689T>C, NM_001348485.2:c.2689T>G, NM_001348485.1:c.2689T>C, NM_001348485.1:c.2689T>G, NM_001348505.2:c.2254T>C, NM_001348505.2:c.2254T>G, NM_001348505.1:c.2254T>C, NM_001348505.1:c.2254T>G, NM_001282881.2:c.2254T>C, NM_001282881.2:c.2254T>G, NM_001282881.1:c.2254T>C, NM_001282881.1:c.2254T>G, NM_001348499.2:c.2113T>C, NM_001348499.2:c.2113T>G, NM_001348499.1:c.2113T>C, NM_001348499.1:c.2113T>G, NM_001348507.2:c.2161T>C, NM_001348507.2:c.2161T>G, NM_001348507.1:c.2161T>C, NM_001348507.1:c.2161T>G, NM_001348508.2:c.2113T>C, NM_001348508.2:c.2113T>G, NM_001348508.1:c.2113T>C, NM_001348508.1:c.2113T>G, NM_001348506.2:c.2113T>C, NM_001348506.2:c.2113T>G, NM_001348506.1:c.2113T>C, NM_001348506.1:c.2113T>G, NR_145711.2:n.2401T>C, NR_145711.2:n.2401T>G, NR_145711.1:n.2433T>C, NR_145711.1:n.2433T>G, NM_001348504.2:c.2161T>C, NM_001348504.2:c.2161T>G, NM_001348504.1:c.2161T>C, NM_001348504.1:c.2161T>G, NM_001348500.2:c.2113T>C, NM_001348500.2:c.2113T>G, NM_001348500.1:c.2113T>C, NM_001348500.1:c.2113T>G, NM_001348502.2:c.2113T>C, NM_001348502.2:c.2113T>G, NM_001348502.1:c.2113T>C, NM_001348502.1:c.2113T>G, NM_001395654.1:c.2821T>C, NM_001395654.1:c.2821T>G, NM_001395652.1:c.2749T>C, NM_001395652.1:c.2749T>G, NM_001395653.1:c.2821T>C, NM_001395653.1:c.2821T>G, XM_011517395.4:c.3052T>C, XM_011517395.4:c.3052T>G, XM_011517395.3:c.3052T>C, XM_011517395.3:c.3052T>G, XM_011517395.2:c.3052T>C, XM_011517395.2:c.3052T>G, XM_011517395.1:c.3052T>C, XM_011517395.1:c.3052T>G, XM_005251106.4:c.2830T>C, XM_005251106.4:c.2830T>G, XM_005251106.3:c.2830T>C, XM_005251106.3:c.2830T>G, XM_005251106.2:c.2830T>C, XM_005251106.2:c.2830T>G, XM_005251106.1:c.2830T>C, XM_005251106.1:c.2830T>G, XM_005251107.4:c.2830T>C, XM_005251107.4:c.2830T>G, XM_005251107.3:c.2830T>C, XM_005251107.3:c.2830T>G, XM_005251107.2:c.2830T>C, XM_005251107.2:c.2830T>G, XM_005251107.1:c.2830T>C, XM_005251107.1:c.2830T>G, XM_017014006.3:c.3004T>C, XM_017014006.3:c.3004T>G, XM_017014006.2:c.3004T>C, XM_017014006.2:c.3004T>G, XM_017014006.1:c.3004T>C, XM_017014006.1:c.3004T>G, XM_017014008.3:c.3052T>C, XM_017014008.3:c.3052T>G, XM_017014008.2:c.3052T>C, XM_017014008.2:c.3052T>G, XM_017014008.1:c.3052T>C, XM_017014008.1:c.3052T>G, XM_017014009.3:c.3052T>C, XM_017014009.3:c.3052T>G, XM_017014009.2:c.3052T>C, XM_017014009.2:c.3052T>G, XM_017014009.1:c.3052T>C, XM_017014009.1:c.3052T>G, XM_017014010.3:c.2911T>C, XM_017014010.3:c.2911T>G, XM_017014010.2:c.2911T>C, XM_017014010.2:c.2911T>G, XM_017014010.1:c.2911T>C, XM_017014010.1:c.2911T>G, XM_017014011.3:c.3004T>C, XM_017014011.3:c.3004T>G, XM_017014011.2:c.3004T>C, XM_017014011.2:c.3004T>G, XM_017014011.1:c.3004T>C, XM_017014011.1:c.3004T>G, XM_017014012.3:c.3004T>C, XM_017014012.3:c.3004T>G, XM_017014012.2:c.3004T>C, XM_017014012.2:c.3004T>G, XM_017014012.1:c.3004T>C, XM_017014012.1:c.3004T>G, XM_017014015.3:c.2911T>C, XM_017014015.3:c.2911T>G, XM_017014015.2:c.2911T>C, XM_017014015.2:c.2911T>G, XM_017014015.1:c.2911T>C, XM_017014015.1:c.2911T>G, XM_017014016.3:c.2863T>C, XM_017014016.3:c.2863T>G, XM_017014016.2:c.2863T>C, XM_017014016.2:c.2863T>G, XM_017014016.1:c.2863T>C, XM_017014016.1:c.2863T>G, XM_017014014.2:c.2689T>C, XM_017014014.2:c.2689T>G, XM_017014014.1:c.2689T>C, XM_017014014.1:c.2689T>G, XM_017014022.2:c.2254T>C, XM_017014022.2:c.2254T>G, XM_017014022.1:c.2254T>C, XM_017014022.1:c.2254T>G, XM_017014036.2:c.2113T>C, XM_017014036.2:c.2113T>G, XM_017014036.1:c.2113T>C, XM_017014036.1:c.2113T>G, XM_047422468.1:c.3004T>C, XM_047422468.1:c.3004T>G, XM_047422469.1:c.2962T>C, XM_047422469.1:c.2962T>G, XM_047422470.1:c.2920T>C, XM_047422470.1:c.2920T>G, XM_047422471.1:c.2872T>C, XM_047422471.1:c.2872T>G, XM_047422472.1:c.2872T>C, XM_047422472.1:c.2872T>G, XM_047422473.1:c.2863T>C, XM_047422473.1:c.2863T>G, XM_047422474.1:c.2830T>C, XM_047422474.1:c.2830T>G, XM_047422475.1:c.2779T>C, XM_047422475.1:c.2779T>G, XM_047422476.1:c.2731T>C, XM_047422476.1:c.2731T>G, XM_047422477.1:c.2731T>C, XM_047422477.1:c.2731T>G, XM_047422478.1:c.2878T>C, XM_047422478.1:c.2878T>G, XM_047422479.1:c.2872T>C, XM_047422479.1:c.2872T>G, XM_047422480.1:c.2872T>C, XM_047422480.1:c.2872T>G, XM_047422481.1:c.2731T>C, XM_047422481.1:c.2731T>G, XM_047422482.1:c.2689T>C, XM_047422482.1:c.2689T>G, XM_047422483.1:c.2830T>C, XM_047422483.1:c.2830T>G, NP_055492.3:p.Tyr705His, NP_055492.3:p.Tyr705Asp, NP_001093587.1:p.Tyr913His, NP_001093587.1:p.Tyr913Asp, NP_001335413.1:p.Tyr988His, NP_001335413.1:p.Tyr988Asp, NP_001335418.1:p.Tyr897His, NP_001335418.1:p.Tyr897Asp, NP_001335419.1:p.Tyr901His, NP_001335419.1:p.Tyr901Asp, NP_001335420.1:p.Tyr984His, NP_001335420.1:p.Tyr984Asp, NP_001335415.1:p.Tyr948His, NP_001335415.1:p.Tyr948Asp, NP_001335423.1:p.Tyr944His, NP_001335423.1:p.Tyr944Asp, NP_001335417.1:p.Tyr941His, NP_001335417.1:p.Tyr941Asp, NP_001335438.1:p.Tyr705His, NP_001335438.1:p.Tyr705Asp, NP_001335416.1:p.Tyr901His, NP_001335416.1:p.Tyr901Asp, NP_001335424.1:p.Tyr911His, NP_001335424.1:p.Tyr911Asp, NP_001335421.1:p.Tyr901His, NP_001335421.1:p.Tyr901Asp, NP_001335425.1:p.Tyr901His, NP_001335425.1:p.Tyr901Asp, NP_001335422.1:p.Tyr897His, NP_001335422.1:p.Tyr897Asp, NP_001335426.1:p.Tyr944His, NP_001335426.1:p.Tyr944Asp, NP_001335432.1:p.Tyr705His, NP_001335432.1:p.Tyr705Asp, NP_001335427.1:p.Tyr705His, NP_001335427.1:p.Tyr705Asp, NP_001335430.1:p.Tyr705His, NP_001335430.1:p.Tyr705Asp, NP_001335414.1:p.Tyr897His, NP_001335414.1:p.Tyr897Asp, NP_001335434.1:p.Tyr752His, NP_001335434.1:p.Tyr752Asp, NP_001269810.1:p.Tyr752His, NP_001269810.1:p.Tyr752Asp, NP_001335428.1:p.Tyr705His, NP_001335428.1:p.Tyr705Asp, NP_001335436.1:p.Tyr721His, NP_001335436.1:p.Tyr721Asp, NP_001335437.1:p.Tyr705His, NP_001335437.1:p.Tyr705Asp, NP_001335435.1:p.Tyr705His, NP_001335435.1:p.Tyr705Asp, NP_001335433.1:p.Tyr721His, NP_001335433.1:p.Tyr721Asp, NP_001335429.1:p.Tyr705His, NP_001335429.1:p.Tyr705Asp, NP_001335431.1:p.Tyr705His, NP_001335431.1:p.Tyr705Asp, NP_001382583.1:p.Tyr941His, NP_001382583.1:p.Tyr941Asp, NP_001382581.1:p.Tyr917His, NP_001382581.1:p.Tyr917Asp, NP_001382582.1:p.Tyr941His, NP_001382582.1:p.Tyr941Asp, XP_011515697.1:p.Tyr1018His, XP_011515697.1:p.Tyr1018Asp, XP_005251163.1:p.Tyr944His, XP_005251163.1:p.Tyr944Asp, XP_005251164.1:p.Tyr944His, XP_005251164.1:p.Tyr944Asp, XP_016869495.1:p.Tyr1002His, XP_016869495.1:p.Tyr1002Asp, XP_016869497.1:p.Tyr1018His, XP_016869497.1:p.Tyr1018Asp, XP_016869498.1:p.Tyr1018His, XP_016869498.1:p.Tyr1018Asp, XP_016869499.1:p.Tyr971His, XP_016869499.1:p.Tyr971Asp, XP_016869500.1:p.Tyr1002His, XP_016869500.1:p.Tyr1002Asp, XP_016869501.1:p.Tyr1002His, XP_016869501.1:p.Tyr1002Asp, XP_016869504.1:p.Tyr971His, XP_016869504.1:p.Tyr971Asp, XP_016869505.1:p.Tyr955His, XP_016869505.1:p.Tyr955Asp, XP_016869503.1:p.Tyr897His, XP_016869503.1:p.Tyr897Asp, XP_016869511.1:p.Tyr752His, XP_016869511.1:p.Tyr752Asp, XP_016869525.1:p.Tyr705His, XP_016869525.1:p.Tyr705Asp, XP_047278424.1:p.Tyr1002His, XP_047278424.1:p.Tyr1002Asp, XP_047278425.1:p.Tyr988His, XP_047278425.1:p.Tyr988Asp, XP_047278426.1:p.Tyr974His, XP_047278426.1:p.Tyr974Asp, XP_047278427.1:p.Tyr958His, XP_047278427.1:p.Tyr958Asp, XP_047278428.1:p.Tyr958His, XP_047278428.1:p.Tyr958Asp, XP_047278429.1:p.Tyr955His, XP_047278429.1:p.Tyr955Asp, XP_047278430.1:p.Tyr944His, XP_047278430.1:p.Tyr944Asp, XP_047278431.1:p.Tyr927His, XP_047278431.1:p.Tyr927Asp, XP_047278432.1:p.Tyr911His, XP_047278432.1:p.Tyr911Asp, XP_047278433.1:p.Tyr911His, XP_047278433.1:p.Tyr911Asp, XP_047278434.1:p.Tyr960His, XP_047278434.1:p.Tyr960Asp, XP_047278435.1:p.Tyr958His, XP_047278435.1:p.Tyr958Asp, XP_047278436.1:p.Tyr958His, XP_047278436.1:p.Tyr958Asp, XP_047278437.1:p.Tyr911His, XP_047278437.1:p.Tyr911Asp, XP_047278438.1:p.Tyr897His, XP_047278438.1:p.Tyr897Asp, XP_047278439.1:p.Tyr944His, XP_047278439.1:p.Tyr944Asp

                                        20.

                                        rs1472049188 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          8:104244999 (GRCh38)
                                          8:105257227 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:104244998:C:T
                                          Gene:
                                          RIMS2 (Varview)
                                          Functional Consequence:
                                          stop_gained,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000008.11:g.104244999C>T, NC_000008.10:g.105257227C>T, NG_053027.1:g.749974C>T, NM_014677.5:c.2860C>T, NM_014677.4:c.2860C>T, NM_001100117.3:c.3418C>T, NM_001100117.2:c.3418C>T, NM_001348484.3:c.4192C>T, NM_001348484.2:c.4192C>T, NM_001348484.1:c.4192C>T, NM_001348489.2:c.4018C>T, NM_001348489.1:c.4018C>T, NM_001348490.2:c.3931C>T, NM_001348490.1:c.3931C>T, NR_145710.2:n.4126C>T, NR_145710.1:n.3988C>T, NM_001348491.2:c.3631C>T, NM_001348491.1:c.3631C>T, NM_001348486.2:c.3589C>T, NM_001348486.1:c.3589C>T, NM_001348494.2:c.3577C>T, NM_001348494.1:c.3577C>T, NM_001348488.2:c.3502C>T, NM_001348488.1:c.3502C>T, NM_001348509.2:c.3439C>T, NM_001348509.1:c.3439C>T, NM_001348487.2:c.3448C>T, NM_001348487.1:c.3448C>T, NM_001348495.2:c.3445C>T, NM_001348495.1:c.3445C>T, NM_001348492.2:c.3415C>T, NM_001348492.1:c.3415C>T, NM_001348496.2:c.3382C>T, NM_001348496.1:c.3382C>T, NM_001348493.2:c.3370C>T, NM_001348493.1:c.3370C>T, NM_001348497.2:c.3364C>T, NM_001348497.1:c.3364C>T, NM_001348503.2:c.3343C>T, NM_001348503.1:c.3343C>T, NM_001348498.2:c.3343C>T, NM_001348498.1:c.3343C>T, NM_001348501.2:c.3196C>T, NM_001348501.1:c.3196C>T, NM_001348485.2:c.3190C>T, NM_001348485.1:c.3190C>T, NM_001348505.2:c.3001C>T, NM_001348505.1:c.3001C>T, NM_001282881.2:c.2935C>T, NM_001282881.1:c.2935C>T, NM_001348499.2:c.2926C>T, NM_001348499.1:c.2926C>T, NM_001348507.2:c.2842C>T, NM_001348507.1:c.2842C>T, NM_001348508.2:c.2827C>T, NM_001348508.1:c.2827C>T, NM_001348506.2:c.2794C>T, NM_001348506.1:c.2794C>T, NR_145711.2:n.3036C>T, NR_145711.1:n.3068C>T, NM_001348504.2:c.2695C>T, NM_001348504.1:c.2695C>T, NM_001348500.2:c.2680C>T, NM_001348500.1:c.2680C>T, NM_001348502.2:c.2614C>T, NM_001348502.1:c.2614C>T, NM_001282882.2:c.226C>T, NM_001282882.1:c.226C>T, NM_001395654.1:c.4051C>T, NM_001395652.1:c.4045C>T, NM_001395653.1:c.3904C>T, XM_011517395.4:c.4501C>T, XM_011517395.3:c.4501C>T, XM_011517395.2:c.4501C>T, XM_011517395.1:c.4501C>T, XM_005251106.4:c.4093C>T, XM_005251106.3:c.4093C>T, XM_005251106.2:c.4093C>T, XM_005251106.1:c.4093C>T, XM_005251107.4:c.4027C>T, XM_005251107.3:c.4027C>T, XM_005251107.2:c.4027C>T, XM_005251107.1:c.4027C>T, XM_006716698.4:c.310C>T, XM_006716698.3:c.310C>T, XM_006716698.2:c.310C>T, XM_006716698.1:c.310C>T, XM_017014006.3:c.4486C>T, XM_017014006.2:c.4486C>T, XM_017014006.1:c.4486C>T, XM_017014008.3:c.4387C>T, XM_017014008.2:c.4387C>T, XM_017014008.1:c.4387C>T, XM_017014009.3:c.4282C>T, XM_017014009.2:c.4282C>T, XM_017014009.1:c.4282C>T, XM_017014010.3:c.4246C>T, XM_017014010.2:c.4246C>T, XM_017014010.1:c.4246C>T, XM_017014011.3:c.4234C>T, XM_017014011.2:c.4234C>T, XM_017014011.1:c.4234C>T, XM_017014012.3:c.4201C>T, XM_017014012.2:c.4201C>T, XM_017014012.1:c.4201C>T, XM_017014015.3:c.4108C>T, XM_017014015.2:c.4108C>T, XM_017014015.1:c.4108C>T, XM_017014016.3:c.4093C>T, XM_017014016.2:c.4093C>T, XM_017014016.1:c.4093C>T, XM_017014014.2:c.4138C>T, XM_017014014.1:c.4138C>T, XM_017014022.2:c.3802C>T, XM_017014022.1:c.3802C>T, XM_017014036.2:c.3442C>T, XM_017014036.1:c.3442C>T, XM_047422468.1:c.4453C>T, XM_047422469.1:c.4411C>T, XM_047422470.1:c.4369C>T, XM_047422471.1:c.4354C>T, XM_047422472.1:c.4321C>T, XM_047422473.1:c.4312C>T, XM_047422474.1:c.4279C>T, XM_047422475.1:c.4228C>T, XM_047422476.1:c.4213C>T, XM_047422477.1:c.4180C>T, XM_047422478.1:c.4147C>T, XM_047422479.1:c.4141C>T, XM_047422480.1:c.4069C>T, XM_047422481.1:c.3928C>T, XM_047422482.1:c.3886C>T, XM_047422483.1:c.3511C>T, NP_055492.3:p.Arg954Ter, NP_001093587.1:p.Arg1140Ter, NP_001335413.1:p.Arg1398Ter, NP_001335418.1:p.Arg1340Ter, NP_001335419.1:p.Arg1311Ter, NP_001335420.1:p.Arg1211Ter, NP_001335415.1:p.Arg1197Ter, NP_001335423.1:p.Arg1193Ter, NP_001335417.1:p.Arg1168Ter, NP_001335438.1:p.Arg1147Ter, NP_001335416.1:p.Arg1150Ter, NP_001335424.1:p.Arg1149Ter, NP_001335421.1:p.Arg1139Ter, NP_001335425.1:p.Arg1128Ter, NP_001335422.1:p.Arg1124Ter, NP_001335426.1:p.Arg1122Ter, NP_001335432.1:p.Arg1115Ter, NP_001335427.1:p.Arg1115Ter, NP_001335430.1:p.Arg1066Ter, NP_001335414.1:p.Arg1064Ter, NP_001335434.1:p.Arg1001Ter, NP_001269810.1:p.Arg979Ter, NP_001335428.1:p.Arg976Ter, NP_001335436.1:p.Arg948Ter, NP_001335437.1:p.Arg943Ter, NP_001335435.1:p.Arg932Ter, NP_001335433.1:p.Arg899Ter, NP_001335429.1:p.Arg894Ter, NP_001335431.1:p.Arg872Ter, NP_001269811.1:p.Arg76Ter, NP_001382583.1:p.Arg1351Ter, NP_001382581.1:p.Arg1349Ter, NP_001382582.1:p.Arg1302Ter, XP_011515697.1:p.Arg1501Ter, XP_005251163.1:p.Arg1365Ter, XP_005251164.1:p.Arg1343Ter, XP_006716761.1:p.Arg104Ter, XP_016869495.1:p.Arg1496Ter, XP_016869497.1:p.Arg1463Ter, XP_016869498.1:p.Arg1428Ter, XP_016869499.1:p.Arg1416Ter, XP_016869500.1:p.Arg1412Ter, XP_016869501.1:p.Arg1401Ter, XP_016869504.1:p.Arg1370Ter, XP_016869505.1:p.Arg1365Ter, XP_016869503.1:p.Arg1380Ter, XP_016869511.1:p.Arg1268Ter, XP_016869525.1:p.Arg1148Ter, XP_047278424.1:p.Arg1485Ter, XP_047278425.1:p.Arg1471Ter, XP_047278426.1:p.Arg1457Ter, XP_047278427.1:p.Arg1452Ter, XP_047278428.1:p.Arg1441Ter, XP_047278429.1:p.Arg1438Ter, XP_047278430.1:p.Arg1427Ter, XP_047278431.1:p.Arg1410Ter, XP_047278432.1:p.Arg1405Ter, XP_047278433.1:p.Arg1394Ter, XP_047278434.1:p.Arg1383Ter, XP_047278435.1:p.Arg1381Ter, XP_047278436.1:p.Arg1357Ter, XP_047278437.1:p.Arg1310Ter, XP_047278438.1:p.Arg1296Ter, XP_047278439.1:p.Arg1171Ter

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