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Items: 1 to 20 of 88

1.

rs1488702469 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    1:153626396 (GRCh38)
    1:153598872 (GRCh37)
    Canonical SPDI:
    NC_000001.11:153626395:T:G
    Gene:
    S100A13 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.153626396T>G, NC_000001.10:g.153598872T>G, XM_011509862.4:c.77A>C, XM_011509862.3:c.77A>C, XM_011509862.2:c.77A>C, XM_011509862.1:c.77A>C, XM_005245434.4:c.77A>C, XM_005245434.3:c.77A>C, XM_005245434.2:c.77A>C, XM_005245434.1:c.77A>C, XM_017002035.3:c.77A>C, XM_017002035.2:c.77A>C, XM_017002035.1:c.77A>C, XM_017002034.3:c.77A>C, XM_017002034.2:c.77A>C, XM_017002034.1:c.77A>C, NM_005979.3:c.77A>C, NM_005979.2:c.77A>C, NM_001024210.2:c.77A>C, NM_001024210.1:c.77A>C, NM_001024213.2:c.77A>C, NM_001024213.1:c.77A>C, XM_017002036.2:c.77A>C, XM_017002036.1:c.77A>C, NM_001024212.2:c.77A>C, NM_001024212.1:c.77A>C, NM_001024211.2:c.77A>C, NM_001024211.1:c.77A>C, XM_047427409.1:c.77A>C, XM_047427401.1:c.77A>C, XM_047427439.1:c.77A>C, XM_047427444.1:c.77A>C, XM_047427445.1:c.77A>C, XM_047427407.1:c.77A>C, XM_047427408.1:c.77A>C, XM_047427410.1:c.77A>C, XM_047427406.1:c.77A>C, XM_047427433.1:c.77A>C, XM_047427404.1:c.77A>C, XM_047427435.1:c.77A>C, XM_047427413.1:c.77A>C, XM_047427446.1:c.77A>C, XM_047427417.1:c.77A>C, XM_047427419.1:c.77A>C, XP_011508164.1:p.Gln26Pro, XP_005245491.1:p.Gln26Pro, XP_016857524.1:p.Gln26Pro, XP_016857523.1:p.Gln26Pro, NP_005970.1:p.Gln26Pro, NP_001019381.1:p.Gln26Pro, NP_001019384.1:p.Gln26Pro, XP_016857525.1:p.Gln26Pro, NP_001019383.1:p.Gln26Pro, NP_001019382.1:p.Gln26Pro, XP_047283365.1:p.Gln26Pro, XP_047283357.1:p.Gln26Pro, XP_047283395.1:p.Gln26Pro, XP_047283400.1:p.Gln26Pro, XP_047283401.1:p.Gln26Pro, XP_047283363.1:p.Gln26Pro, XP_047283364.1:p.Gln26Pro, XP_047283366.1:p.Gln26Pro, XP_047283362.1:p.Gln26Pro, XP_047283389.1:p.Gln26Pro, XP_047283360.1:p.Gln26Pro, XP_047283391.1:p.Gln26Pro, XP_047283369.1:p.Gln26Pro, XP_047283402.1:p.Gln26Pro, XP_047283373.1:p.Gln26Pro, XP_047283375.1:p.Gln26Pro

    2.

    rs1479461239 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      1:153618938 (GRCh38)
      1:153591414 (GRCh37)
      Canonical SPDI:
      NC_000001.11:153618937:T:C,NC_000001.11:153618937:T:G
      Gene:
      S100A13 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.153618938T>C, NC_000001.11:g.153618938T>G, NC_000001.10:g.153591414T>C, NC_000001.10:g.153591414T>G, XM_011509862.4:c.254A>G, XM_011509862.4:c.254A>C, XM_011509862.3:c.254A>G, XM_011509862.3:c.254A>C, XM_011509862.2:c.254A>G, XM_011509862.2:c.254A>C, XM_011509862.1:c.254A>G, XM_011509862.1:c.254A>C, XM_005245434.4:c.254A>G, XM_005245434.4:c.254A>C, XM_005245434.3:c.254A>G, XM_005245434.3:c.254A>C, XM_005245434.2:c.254A>G, XM_005245434.2:c.254A>C, XM_005245434.1:c.254A>G, XM_005245434.1:c.254A>C, XM_017002035.3:c.254A>G, XM_017002035.3:c.254A>C, XM_017002035.2:c.254A>G, XM_017002035.2:c.254A>C, XM_017002035.1:c.254A>G, XM_017002035.1:c.254A>C, XM_017002034.3:c.254A>G, XM_017002034.3:c.254A>C, XM_017002034.2:c.254A>G, XM_017002034.2:c.254A>C, XM_017002034.1:c.254A>G, XM_017002034.1:c.254A>C, NM_005979.3:c.254A>G, NM_005979.3:c.254A>C, NM_005979.2:c.254A>G, NM_005979.2:c.254A>C, NM_001024210.2:c.254A>G, NM_001024210.2:c.254A>C, NM_001024210.1:c.254A>G, NM_001024210.1:c.254A>C, NM_001024213.2:c.254A>G, NM_001024213.2:c.254A>C, NM_001024213.1:c.254A>G, NM_001024213.1:c.254A>C, XM_017002036.2:c.254A>G, XM_017002036.2:c.254A>C, XM_017002036.1:c.254A>G, XM_017002036.1:c.254A>C, NM_001024212.2:c.254A>G, NM_001024212.2:c.254A>C, NM_001024212.1:c.254A>G, NM_001024212.1:c.254A>C, NM_001024211.2:c.254A>G, NM_001024211.2:c.254A>C, NM_001024211.1:c.254A>G, NM_001024211.1:c.254A>C, XM_047427409.1:c.254A>G, XM_047427409.1:c.254A>C, XM_047427401.1:c.254A>G, XM_047427401.1:c.254A>C, XM_047427439.1:c.254A>G, XM_047427439.1:c.254A>C, XM_047427444.1:c.254A>G, XM_047427444.1:c.254A>C, XM_047427445.1:c.254A>G, XM_047427445.1:c.254A>C, XM_047427407.1:c.254A>G, XM_047427407.1:c.254A>C, XM_047427408.1:c.254A>G, XM_047427408.1:c.254A>C, XM_047427410.1:c.254A>G, XM_047427410.1:c.254A>C, XM_047427406.1:c.254A>G, XM_047427406.1:c.254A>C, XM_047427433.1:c.254A>G, XM_047427433.1:c.254A>C, XM_047427404.1:c.254A>G, XM_047427404.1:c.254A>C, XM_047427435.1:c.254A>G, XM_047427435.1:c.254A>C, XM_047427413.1:c.254A>G, XM_047427413.1:c.254A>C, XM_047427446.1:c.254A>G, XM_047427446.1:c.254A>C, XM_047427417.1:c.254A>G, XM_047427417.1:c.254A>C, XM_047427419.1:c.254A>G, XM_047427419.1:c.254A>C, XP_011508164.1:p.Lys85Arg, XP_011508164.1:p.Lys85Thr, XP_005245491.1:p.Lys85Arg, XP_005245491.1:p.Lys85Thr, XP_016857524.1:p.Lys85Arg, XP_016857524.1:p.Lys85Thr, XP_016857523.1:p.Lys85Arg, XP_016857523.1:p.Lys85Thr, NP_005970.1:p.Lys85Arg, NP_005970.1:p.Lys85Thr, NP_001019381.1:p.Lys85Arg, NP_001019381.1:p.Lys85Thr, NP_001019384.1:p.Lys85Arg, NP_001019384.1:p.Lys85Thr, XP_016857525.1:p.Lys85Arg, XP_016857525.1:p.Lys85Thr, NP_001019383.1:p.Lys85Arg, NP_001019383.1:p.Lys85Thr, NP_001019382.1:p.Lys85Arg, NP_001019382.1:p.Lys85Thr, XP_047283365.1:p.Lys85Arg, XP_047283365.1:p.Lys85Thr, XP_047283357.1:p.Lys85Arg, XP_047283357.1:p.Lys85Thr, XP_047283395.1:p.Lys85Arg, XP_047283395.1:p.Lys85Thr, XP_047283400.1:p.Lys85Arg, XP_047283400.1:p.Lys85Thr, XP_047283401.1:p.Lys85Arg, XP_047283401.1:p.Lys85Thr, XP_047283363.1:p.Lys85Arg, XP_047283363.1:p.Lys85Thr, XP_047283364.1:p.Lys85Arg, XP_047283364.1:p.Lys85Thr, XP_047283366.1:p.Lys85Arg, XP_047283366.1:p.Lys85Thr, XP_047283362.1:p.Lys85Arg, XP_047283362.1:p.Lys85Thr, XP_047283389.1:p.Lys85Arg, XP_047283389.1:p.Lys85Thr, XP_047283360.1:p.Lys85Arg, XP_047283360.1:p.Lys85Thr, XP_047283391.1:p.Lys85Arg, XP_047283391.1:p.Lys85Thr, XP_047283369.1:p.Lys85Arg, XP_047283369.1:p.Lys85Thr, XP_047283402.1:p.Lys85Arg, XP_047283402.1:p.Lys85Thr, XP_047283373.1:p.Lys85Arg, XP_047283373.1:p.Lys85Thr, XP_047283375.1:p.Lys85Arg, XP_047283375.1:p.Lys85Thr

      3.

      rs1476802388 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        1:153618918 (GRCh38)
        1:153591394 (GRCh37)
        Canonical SPDI:
        NC_000001.11:153618917:C:A
        Gene:
        S100A13 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.153618918C>A, NC_000001.10:g.153591394C>A, XM_011509862.4:c.274G>T, XM_011509862.3:c.274G>T, XM_011509862.2:c.274G>T, XM_011509862.1:c.274G>T, XM_005245434.4:c.274G>T, XM_005245434.3:c.274G>T, XM_005245434.2:c.274G>T, XM_005245434.1:c.274G>T, XM_017002035.3:c.274G>T, XM_017002035.2:c.274G>T, XM_017002035.1:c.274G>T, XM_017002034.3:c.274G>T, XM_017002034.2:c.274G>T, XM_017002034.1:c.274G>T, NM_005979.3:c.274G>T, NM_005979.2:c.274G>T, NM_001024210.2:c.274G>T, NM_001024210.1:c.274G>T, NM_001024213.2:c.274G>T, NM_001024213.1:c.274G>T, XM_017002036.2:c.274G>T, XM_017002036.1:c.274G>T, NM_001024212.2:c.274G>T, NM_001024212.1:c.274G>T, NM_001024211.2:c.274G>T, NM_001024211.1:c.274G>T, XM_047427409.1:c.274G>T, XM_047427401.1:c.274G>T, XM_047427439.1:c.274G>T, XM_047427444.1:c.274G>T, XM_047427445.1:c.274G>T, XM_047427407.1:c.274G>T, XM_047427408.1:c.274G>T, XM_047427410.1:c.274G>T, XM_047427406.1:c.274G>T, XM_047427433.1:c.274G>T, XM_047427404.1:c.274G>T, XM_047427435.1:c.274G>T, XM_047427413.1:c.274G>T, XM_047427446.1:c.274G>T, XM_047427417.1:c.274G>T, XM_047427419.1:c.274G>T, XP_011508164.1:p.Asp92Tyr, XP_005245491.1:p.Asp92Tyr, XP_016857524.1:p.Asp92Tyr, XP_016857523.1:p.Asp92Tyr, NP_005970.1:p.Asp92Tyr, NP_001019381.1:p.Asp92Tyr, NP_001019384.1:p.Asp92Tyr, XP_016857525.1:p.Asp92Tyr, NP_001019383.1:p.Asp92Tyr, NP_001019382.1:p.Asp92Tyr, XP_047283365.1:p.Asp92Tyr, XP_047283357.1:p.Asp92Tyr, XP_047283395.1:p.Asp92Tyr, XP_047283400.1:p.Asp92Tyr, XP_047283401.1:p.Asp92Tyr, XP_047283363.1:p.Asp92Tyr, XP_047283364.1:p.Asp92Tyr, XP_047283366.1:p.Asp92Tyr, XP_047283362.1:p.Asp92Tyr, XP_047283389.1:p.Asp92Tyr, XP_047283360.1:p.Asp92Tyr, XP_047283391.1:p.Asp92Tyr, XP_047283369.1:p.Asp92Tyr, XP_047283402.1:p.Asp92Tyr, XP_047283373.1:p.Asp92Tyr, XP_047283375.1:p.Asp92Tyr

        4.

        rs1458573975 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:153618904 (GRCh38)
          1:153591380 (GRCh37)
          Canonical SPDI:
          NC_000001.11:153618903:C:T
          Gene:
          S100A13 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          NC_000001.11:g.153618904C>T, NC_000001.10:g.153591380C>T, XM_011509862.4:c.288G>A, XM_011509862.3:c.288G>A, XM_011509862.2:c.288G>A, XM_011509862.1:c.288G>A, XM_005245434.4:c.288G>A, XM_005245434.3:c.288G>A, XM_005245434.2:c.288G>A, XM_005245434.1:c.288G>A, XM_017002035.3:c.288G>A, XM_017002035.2:c.288G>A, XM_017002035.1:c.288G>A, XM_017002034.3:c.288G>A, XM_017002034.2:c.288G>A, XM_017002034.1:c.288G>A, NM_005979.3:c.288G>A, NM_005979.2:c.288G>A, NM_001024210.2:c.288G>A, NM_001024210.1:c.288G>A, NM_001024213.2:c.288G>A, NM_001024213.1:c.288G>A, XM_017002036.2:c.288G>A, XM_017002036.1:c.288G>A, NM_001024212.2:c.288G>A, NM_001024212.1:c.288G>A, NM_001024211.2:c.288G>A, NM_001024211.1:c.288G>A, XM_047427409.1:c.288G>A, XM_047427401.1:c.288G>A, XM_047427439.1:c.288G>A, XM_047427444.1:c.288G>A, XM_047427445.1:c.288G>A, XM_047427407.1:c.288G>A, XM_047427408.1:c.288G>A, XM_047427410.1:c.288G>A, XM_047427406.1:c.288G>A, XM_047427433.1:c.288G>A, XM_047427404.1:c.288G>A, XM_047427435.1:c.288G>A, XM_047427413.1:c.288G>A, XM_047427446.1:c.288G>A, XM_047427417.1:c.288G>A, XM_047427419.1:c.288G>A

          5.

          rs1421084318 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:153626358 (GRCh38)
            1:153598834 (GRCh37)
            Canonical SPDI:
            NC_000001.11:153626357:T:C
            Gene:
            S100A13 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000001.11:g.153626358T>C, NC_000001.10:g.153598834T>C, XM_011509862.4:c.115A>G, XM_011509862.3:c.115A>G, XM_011509862.2:c.115A>G, XM_011509862.1:c.115A>G, XM_005245434.4:c.115A>G, XM_005245434.3:c.115A>G, XM_005245434.2:c.115A>G, XM_005245434.1:c.115A>G, XM_017002035.3:c.115A>G, XM_017002035.2:c.115A>G, XM_017002035.1:c.115A>G, XM_017002034.3:c.115A>G, XM_017002034.2:c.115A>G, XM_017002034.1:c.115A>G, NM_005979.3:c.115A>G, NM_005979.2:c.115A>G, NM_001024210.2:c.115A>G, NM_001024210.1:c.115A>G, NM_001024213.2:c.115A>G, NM_001024213.1:c.115A>G, XM_017002036.2:c.115A>G, XM_017002036.1:c.115A>G, NM_001024212.2:c.115A>G, NM_001024212.1:c.115A>G, NM_001024211.2:c.115A>G, NM_001024211.1:c.115A>G, XM_047427409.1:c.115A>G, XM_047427401.1:c.115A>G, XM_047427439.1:c.115A>G, XM_047427444.1:c.115A>G, XM_047427445.1:c.115A>G, XM_047427407.1:c.115A>G, XM_047427408.1:c.115A>G, XM_047427410.1:c.115A>G, XM_047427406.1:c.115A>G, XM_047427433.1:c.115A>G, XM_047427404.1:c.115A>G, XM_047427435.1:c.115A>G, XM_047427413.1:c.115A>G, XM_047427446.1:c.115A>G, XM_047427417.1:c.115A>G, XM_047427419.1:c.115A>G, XP_011508164.1:p.Lys39Glu, XP_005245491.1:p.Lys39Glu, XP_016857524.1:p.Lys39Glu, XP_016857523.1:p.Lys39Glu, NP_005970.1:p.Lys39Glu, NP_001019381.1:p.Lys39Glu, NP_001019384.1:p.Lys39Glu, XP_016857525.1:p.Lys39Glu, NP_001019383.1:p.Lys39Glu, NP_001019382.1:p.Lys39Glu, XP_047283365.1:p.Lys39Glu, XP_047283357.1:p.Lys39Glu, XP_047283395.1:p.Lys39Glu, XP_047283400.1:p.Lys39Glu, XP_047283401.1:p.Lys39Glu, XP_047283363.1:p.Lys39Glu, XP_047283364.1:p.Lys39Glu, XP_047283366.1:p.Lys39Glu, XP_047283362.1:p.Lys39Glu, XP_047283389.1:p.Lys39Glu, XP_047283360.1:p.Lys39Glu, XP_047283391.1:p.Lys39Glu, XP_047283369.1:p.Lys39Glu, XP_047283402.1:p.Lys39Glu, XP_047283373.1:p.Lys39Glu, XP_047283375.1:p.Lys39Glu

            6.

            rs1394050955 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              1:153626445 (GRCh38)
              1:153598921 (GRCh37)
              Canonical SPDI:
              NC_000001.11:153626444:C:G
              Gene:
              S100A1 (Varview), S100A13 (Varview)
              Functional Consequence:
              missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.153626445C>G, NC_000001.10:g.153598921C>G, XM_011509862.4:c.28G>C, XM_011509862.3:c.28G>C, XM_011509862.2:c.28G>C, XM_011509862.1:c.28G>C, XM_005245434.4:c.28G>C, XM_005245434.3:c.28G>C, XM_005245434.2:c.28G>C, XM_005245434.1:c.28G>C, XM_017002035.3:c.28G>C, XM_017002035.2:c.28G>C, XM_017002035.1:c.28G>C, XM_017002034.3:c.28G>C, XM_017002034.2:c.28G>C, XM_017002034.1:c.28G>C, NM_005979.3:c.28G>C, NM_005979.2:c.28G>C, NM_001024210.2:c.28G>C, NM_001024210.1:c.28G>C, NM_001024213.2:c.28G>C, NM_001024213.1:c.28G>C, XM_017002036.2:c.28G>C, XM_017002036.1:c.28G>C, NM_001024212.2:c.28G>C, NM_001024212.1:c.28G>C, NM_001024211.2:c.28G>C, NM_001024211.1:c.28G>C, XM_047427409.1:c.28G>C, XM_047427401.1:c.28G>C, XM_047427439.1:c.28G>C, XM_047427444.1:c.28G>C, XM_047427445.1:c.28G>C, XM_047427407.1:c.28G>C, XM_047427408.1:c.28G>C, XM_047427410.1:c.28G>C, XM_047427406.1:c.28G>C, XM_047427433.1:c.28G>C, XM_047427404.1:c.28G>C, XM_047427435.1:c.28G>C, XM_047427413.1:c.28G>C, XM_047427446.1:c.28G>C, XM_047427417.1:c.28G>C, XM_047427419.1:c.28G>C, XP_011508164.1:p.Glu10Gln, XP_005245491.1:p.Glu10Gln, XP_016857524.1:p.Glu10Gln, XP_016857523.1:p.Glu10Gln, NP_005970.1:p.Glu10Gln, NP_001019381.1:p.Glu10Gln, NP_001019384.1:p.Glu10Gln, XP_016857525.1:p.Glu10Gln, NP_001019383.1:p.Glu10Gln, NP_001019382.1:p.Glu10Gln, XP_047283365.1:p.Glu10Gln, XP_047283357.1:p.Glu10Gln, XP_047283395.1:p.Glu10Gln, XP_047283400.1:p.Glu10Gln, XP_047283401.1:p.Glu10Gln, XP_047283363.1:p.Glu10Gln, XP_047283364.1:p.Glu10Gln, XP_047283366.1:p.Glu10Gln, XP_047283362.1:p.Glu10Gln, XP_047283389.1:p.Glu10Gln, XP_047283360.1:p.Glu10Gln, XP_047283391.1:p.Glu10Gln, XP_047283369.1:p.Glu10Gln, XP_047283402.1:p.Glu10Gln, XP_047283373.1:p.Glu10Gln, XP_047283375.1:p.Glu10Gln

              7.

              rs1389953420 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                1:153626449 (GRCh38)
                1:153598925 (GRCh37)
                Canonical SPDI:
                NC_000001.11:153626448:C:G,NC_000001.11:153626448:C:T
                Gene:
                S100A1 (Varview), S100A13 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000895/4 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                G=0.000021/3 (GnomAD)
                G=0.000893/4 (Estonian)
                HGVS:
                NC_000001.11:g.153626449C>G, NC_000001.11:g.153626449C>T, NC_000001.10:g.153598925C>G, NC_000001.10:g.153598925C>T, XM_011509862.4:c.24G>C, XM_011509862.4:c.24G>A, XM_011509862.3:c.24G>C, XM_011509862.3:c.24G>A, XM_011509862.2:c.24G>C, XM_011509862.2:c.24G>A, XM_011509862.1:c.24G>C, XM_011509862.1:c.24G>A, XM_005245434.4:c.24G>C, XM_005245434.4:c.24G>A, XM_005245434.3:c.24G>C, XM_005245434.3:c.24G>A, XM_005245434.2:c.24G>C, XM_005245434.2:c.24G>A, XM_005245434.1:c.24G>C, XM_005245434.1:c.24G>A, XM_017002035.3:c.24G>C, XM_017002035.3:c.24G>A, XM_017002035.2:c.24G>C, XM_017002035.2:c.24G>A, XM_017002035.1:c.24G>C, XM_017002035.1:c.24G>A, XM_017002034.3:c.24G>C, XM_017002034.3:c.24G>A, XM_017002034.2:c.24G>C, XM_017002034.2:c.24G>A, XM_017002034.1:c.24G>C, XM_017002034.1:c.24G>A, NM_005979.3:c.24G>C, NM_005979.3:c.24G>A, NM_005979.2:c.24G>C, NM_005979.2:c.24G>A, NM_001024210.2:c.24G>C, NM_001024210.2:c.24G>A, NM_001024210.1:c.24G>C, NM_001024210.1:c.24G>A, NM_001024213.2:c.24G>C, NM_001024213.2:c.24G>A, NM_001024213.1:c.24G>C, NM_001024213.1:c.24G>A, XM_017002036.2:c.24G>C, XM_017002036.2:c.24G>A, XM_017002036.1:c.24G>C, XM_017002036.1:c.24G>A, NM_001024212.2:c.24G>C, NM_001024212.2:c.24G>A, NM_001024212.1:c.24G>C, NM_001024212.1:c.24G>A, NM_001024211.2:c.24G>C, NM_001024211.2:c.24G>A, NM_001024211.1:c.24G>C, NM_001024211.1:c.24G>A, XM_047427409.1:c.24G>C, XM_047427409.1:c.24G>A, XM_047427401.1:c.24G>C, XM_047427401.1:c.24G>A, XM_047427439.1:c.24G>C, XM_047427439.1:c.24G>A, XM_047427444.1:c.24G>C, XM_047427444.1:c.24G>A, XM_047427445.1:c.24G>C, XM_047427445.1:c.24G>A, XM_047427407.1:c.24G>C, XM_047427407.1:c.24G>A, XM_047427408.1:c.24G>C, XM_047427408.1:c.24G>A, XM_047427410.1:c.24G>C, XM_047427410.1:c.24G>A, XM_047427406.1:c.24G>C, XM_047427406.1:c.24G>A, XM_047427433.1:c.24G>C, XM_047427433.1:c.24G>A, XM_047427404.1:c.24G>C, XM_047427404.1:c.24G>A, XM_047427435.1:c.24G>C, XM_047427435.1:c.24G>A, XM_047427413.1:c.24G>C, XM_047427413.1:c.24G>A, XM_047427446.1:c.24G>C, XM_047427446.1:c.24G>A, XM_047427417.1:c.24G>C, XM_047427417.1:c.24G>A, XM_047427419.1:c.24G>C, XM_047427419.1:c.24G>A, XP_011508164.1:p.Glu8Asp, XP_005245491.1:p.Glu8Asp, XP_016857524.1:p.Glu8Asp, XP_016857523.1:p.Glu8Asp, NP_005970.1:p.Glu8Asp, NP_001019381.1:p.Glu8Asp, NP_001019384.1:p.Glu8Asp, XP_016857525.1:p.Glu8Asp, NP_001019383.1:p.Glu8Asp, NP_001019382.1:p.Glu8Asp, XP_047283365.1:p.Glu8Asp, XP_047283357.1:p.Glu8Asp, XP_047283395.1:p.Glu8Asp, XP_047283400.1:p.Glu8Asp, XP_047283401.1:p.Glu8Asp, XP_047283363.1:p.Glu8Asp, XP_047283364.1:p.Glu8Asp, XP_047283366.1:p.Glu8Asp, XP_047283362.1:p.Glu8Asp, XP_047283389.1:p.Glu8Asp, XP_047283360.1:p.Glu8Asp, XP_047283391.1:p.Glu8Asp, XP_047283369.1:p.Glu8Asp, XP_047283402.1:p.Glu8Asp, XP_047283373.1:p.Glu8Asp, XP_047283375.1:p.Glu8Asp

                8.

                rs1377555880 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  1:153619030 (GRCh38)
                  1:153591506 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:153619029:G:C
                  Gene:
                  S100A13 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000011/3 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000001.11:g.153619030G>C, NC_000001.10:g.153591506G>C, XM_011509862.4:c.162C>G, XM_011509862.3:c.162C>G, XM_011509862.2:c.162C>G, XM_011509862.1:c.162C>G, XM_005245434.4:c.162C>G, XM_005245434.3:c.162C>G, XM_005245434.2:c.162C>G, XM_005245434.1:c.162C>G, XM_017002035.3:c.162C>G, XM_017002035.2:c.162C>G, XM_017002035.1:c.162C>G, XM_017002034.3:c.162C>G, XM_017002034.2:c.162C>G, XM_017002034.1:c.162C>G, NM_005979.3:c.162C>G, NM_005979.2:c.162C>G, NM_001024210.2:c.162C>G, NM_001024210.1:c.162C>G, NM_001024213.2:c.162C>G, NM_001024213.1:c.162C>G, XM_017002036.2:c.162C>G, XM_017002036.1:c.162C>G, NM_001024212.2:c.162C>G, NM_001024212.1:c.162C>G, NM_001024211.2:c.162C>G, NM_001024211.1:c.162C>G, XM_047427409.1:c.162C>G, XM_047427401.1:c.162C>G, XM_047427439.1:c.162C>G, XM_047427444.1:c.162C>G, XM_047427445.1:c.162C>G, XM_047427407.1:c.162C>G, XM_047427408.1:c.162C>G, XM_047427410.1:c.162C>G, XM_047427406.1:c.162C>G, XM_047427433.1:c.162C>G, XM_047427404.1:c.162C>G, XM_047427435.1:c.162C>G, XM_047427413.1:c.162C>G, XM_047427446.1:c.162C>G, XM_047427417.1:c.162C>G, XM_047427419.1:c.162C>G

                  9.

                  rs1364880090 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:153618979 (GRCh38)
                    1:153591455 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:153618978:G:A
                    Gene:
                    S100A13 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.153618979G>A, NC_000001.10:g.153591455G>A, XM_011509862.4:c.213C>T, XM_011509862.3:c.213C>T, XM_011509862.2:c.213C>T, XM_011509862.1:c.213C>T, XM_005245434.4:c.213C>T, XM_005245434.3:c.213C>T, XM_005245434.2:c.213C>T, XM_005245434.1:c.213C>T, XM_017002035.3:c.213C>T, XM_017002035.2:c.213C>T, XM_017002035.1:c.213C>T, XM_017002034.3:c.213C>T, XM_017002034.2:c.213C>T, XM_017002034.1:c.213C>T, NM_005979.3:c.213C>T, NM_005979.2:c.213C>T, NM_001024210.2:c.213C>T, NM_001024210.1:c.213C>T, NM_001024213.2:c.213C>T, NM_001024213.1:c.213C>T, XM_017002036.2:c.213C>T, XM_017002036.1:c.213C>T, NM_001024212.2:c.213C>T, NM_001024212.1:c.213C>T, NM_001024211.2:c.213C>T, NM_001024211.1:c.213C>T, XM_047427409.1:c.213C>T, XM_047427401.1:c.213C>T, XM_047427439.1:c.213C>T, XM_047427444.1:c.213C>T, XM_047427445.1:c.213C>T, XM_047427407.1:c.213C>T, XM_047427408.1:c.213C>T, XM_047427410.1:c.213C>T, XM_047427406.1:c.213C>T, XM_047427433.1:c.213C>T, XM_047427404.1:c.213C>T, XM_047427435.1:c.213C>T, XM_047427413.1:c.213C>T, XM_047427446.1:c.213C>T, XM_047427417.1:c.213C>T, XM_047427419.1:c.213C>T

                    10.

                    rs1363946193 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      1:153626413 (GRCh38)
                      1:153598889 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:153626412:G:C
                      Gene:
                      S100A13 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0./0 (GnomAD)
                      C=0.000012/3 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.153626413G>C, NC_000001.10:g.153598889G>C, XM_011509862.4:c.60C>G, XM_011509862.3:c.60C>G, XM_011509862.2:c.60C>G, XM_011509862.1:c.60C>G, XM_005245434.4:c.60C>G, XM_005245434.3:c.60C>G, XM_005245434.2:c.60C>G, XM_005245434.1:c.60C>G, XM_017002035.3:c.60C>G, XM_017002035.2:c.60C>G, XM_017002035.1:c.60C>G, XM_017002034.3:c.60C>G, XM_017002034.2:c.60C>G, XM_017002034.1:c.60C>G, NM_005979.3:c.60C>G, NM_005979.2:c.60C>G, NM_001024210.2:c.60C>G, NM_001024210.1:c.60C>G, NM_001024213.2:c.60C>G, NM_001024213.1:c.60C>G, XM_017002036.2:c.60C>G, XM_017002036.1:c.60C>G, NM_001024212.2:c.60C>G, NM_001024212.1:c.60C>G, NM_001024211.2:c.60C>G, NM_001024211.1:c.60C>G, XM_047427409.1:c.60C>G, XM_047427401.1:c.60C>G, XM_047427439.1:c.60C>G, XM_047427444.1:c.60C>G, XM_047427445.1:c.60C>G, XM_047427407.1:c.60C>G, XM_047427408.1:c.60C>G, XM_047427410.1:c.60C>G, XM_047427406.1:c.60C>G, XM_047427433.1:c.60C>G, XM_047427404.1:c.60C>G, XM_047427435.1:c.60C>G, XM_047427413.1:c.60C>G, XM_047427446.1:c.60C>G, XM_047427417.1:c.60C>G, XM_047427419.1:c.60C>G, XP_011508164.1:p.Phe20Leu, XP_005245491.1:p.Phe20Leu, XP_016857524.1:p.Phe20Leu, XP_016857523.1:p.Phe20Leu, NP_005970.1:p.Phe20Leu, NP_001019381.1:p.Phe20Leu, NP_001019384.1:p.Phe20Leu, XP_016857525.1:p.Phe20Leu, NP_001019383.1:p.Phe20Leu, NP_001019382.1:p.Phe20Leu, XP_047283365.1:p.Phe20Leu, XP_047283357.1:p.Phe20Leu, XP_047283395.1:p.Phe20Leu, XP_047283400.1:p.Phe20Leu, XP_047283401.1:p.Phe20Leu, XP_047283363.1:p.Phe20Leu, XP_047283364.1:p.Phe20Leu, XP_047283366.1:p.Phe20Leu, XP_047283362.1:p.Phe20Leu, XP_047283389.1:p.Phe20Leu, XP_047283360.1:p.Phe20Leu, XP_047283391.1:p.Phe20Leu, XP_047283369.1:p.Phe20Leu, XP_047283402.1:p.Phe20Leu, XP_047283373.1:p.Phe20Leu, XP_047283375.1:p.Phe20Leu

                      11.

                      rs1360621896 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        1:153626345 (GRCh38)
                        1:153598821 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:153626344:G:A,NC_000001.11:153626344:G:C
                        Gene:
                        S100A13 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000001.11:g.153626345G>A, NC_000001.11:g.153626345G>C, NC_000001.10:g.153598821G>A, NC_000001.10:g.153598821G>C, XM_011509862.4:c.128C>T, XM_011509862.4:c.128C>G, XM_011509862.3:c.128C>T, XM_011509862.3:c.128C>G, XM_011509862.2:c.128C>T, XM_011509862.2:c.128C>G, XM_011509862.1:c.128C>T, XM_011509862.1:c.128C>G, XM_005245434.4:c.128C>T, XM_005245434.4:c.128C>G, XM_005245434.3:c.128C>T, XM_005245434.3:c.128C>G, XM_005245434.2:c.128C>T, XM_005245434.2:c.128C>G, XM_005245434.1:c.128C>T, XM_005245434.1:c.128C>G, XM_017002035.3:c.128C>T, XM_017002035.3:c.128C>G, XM_017002035.2:c.128C>T, XM_017002035.2:c.128C>G, XM_017002035.1:c.128C>T, XM_017002035.1:c.128C>G, XM_017002034.3:c.128C>T, XM_017002034.3:c.128C>G, XM_017002034.2:c.128C>T, XM_017002034.2:c.128C>G, XM_017002034.1:c.128C>T, XM_017002034.1:c.128C>G, NM_005979.3:c.128C>T, NM_005979.3:c.128C>G, NM_005979.2:c.128C>T, NM_005979.2:c.128C>G, NM_001024210.2:c.128C>T, NM_001024210.2:c.128C>G, NM_001024210.1:c.128C>T, NM_001024210.1:c.128C>G, NM_001024213.2:c.128C>T, NM_001024213.2:c.128C>G, NM_001024213.1:c.128C>T, NM_001024213.1:c.128C>G, XM_017002036.2:c.128C>T, XM_017002036.2:c.128C>G, XM_017002036.1:c.128C>T, XM_017002036.1:c.128C>G, NM_001024212.2:c.128C>T, NM_001024212.2:c.128C>G, NM_001024212.1:c.128C>T, NM_001024212.1:c.128C>G, NM_001024211.2:c.128C>T, NM_001024211.2:c.128C>G, NM_001024211.1:c.128C>T, NM_001024211.1:c.128C>G, XM_047427409.1:c.128C>T, XM_047427409.1:c.128C>G, XM_047427401.1:c.128C>T, XM_047427401.1:c.128C>G, XM_047427439.1:c.128C>T, XM_047427439.1:c.128C>G, XM_047427444.1:c.128C>T, XM_047427444.1:c.128C>G, XM_047427445.1:c.128C>T, XM_047427445.1:c.128C>G, XM_047427407.1:c.128C>T, XM_047427407.1:c.128C>G, XM_047427408.1:c.128C>T, XM_047427408.1:c.128C>G, XM_047427410.1:c.128C>T, XM_047427410.1:c.128C>G, XM_047427406.1:c.128C>T, XM_047427406.1:c.128C>G, XM_047427433.1:c.128C>T, XM_047427433.1:c.128C>G, XM_047427404.1:c.128C>T, XM_047427404.1:c.128C>G, XM_047427435.1:c.128C>T, XM_047427435.1:c.128C>G, XM_047427413.1:c.128C>T, XM_047427413.1:c.128C>G, XM_047427446.1:c.128C>T, XM_047427446.1:c.128C>G, XM_047427417.1:c.128C>T, XM_047427417.1:c.128C>G, XM_047427419.1:c.128C>T, XM_047427419.1:c.128C>G, XP_011508164.1:p.Thr43Ile, XP_011508164.1:p.Thr43Ser, XP_005245491.1:p.Thr43Ile, XP_005245491.1:p.Thr43Ser, XP_016857524.1:p.Thr43Ile, XP_016857524.1:p.Thr43Ser, XP_016857523.1:p.Thr43Ile, XP_016857523.1:p.Thr43Ser, NP_005970.1:p.Thr43Ile, NP_005970.1:p.Thr43Ser, NP_001019381.1:p.Thr43Ile, NP_001019381.1:p.Thr43Ser, NP_001019384.1:p.Thr43Ile, NP_001019384.1:p.Thr43Ser, XP_016857525.1:p.Thr43Ile, XP_016857525.1:p.Thr43Ser, NP_001019383.1:p.Thr43Ile, NP_001019383.1:p.Thr43Ser, NP_001019382.1:p.Thr43Ile, NP_001019382.1:p.Thr43Ser, XP_047283365.1:p.Thr43Ile, XP_047283365.1:p.Thr43Ser, XP_047283357.1:p.Thr43Ile, XP_047283357.1:p.Thr43Ser, XP_047283395.1:p.Thr43Ile, XP_047283395.1:p.Thr43Ser, XP_047283400.1:p.Thr43Ile, XP_047283400.1:p.Thr43Ser, XP_047283401.1:p.Thr43Ile, XP_047283401.1:p.Thr43Ser, XP_047283363.1:p.Thr43Ile, XP_047283363.1:p.Thr43Ser, XP_047283364.1:p.Thr43Ile, XP_047283364.1:p.Thr43Ser, XP_047283366.1:p.Thr43Ile, XP_047283366.1:p.Thr43Ser, XP_047283362.1:p.Thr43Ile, XP_047283362.1:p.Thr43Ser, XP_047283389.1:p.Thr43Ile, XP_047283389.1:p.Thr43Ser, XP_047283360.1:p.Thr43Ile, XP_047283360.1:p.Thr43Ser, XP_047283391.1:p.Thr43Ile, XP_047283391.1:p.Thr43Ser, XP_047283369.1:p.Thr43Ile, XP_047283369.1:p.Thr43Ser, XP_047283402.1:p.Thr43Ile, XP_047283402.1:p.Thr43Ser, XP_047283373.1:p.Thr43Ile, XP_047283373.1:p.Thr43Ser, XP_047283375.1:p.Thr43Ile, XP_047283375.1:p.Thr43Ser

                        12.

                        rs1334606818 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:153626338 (GRCh38)
                          1:153598814 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:153626337:C:T
                          Gene:
                          S100A13 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.153626338C>T, NC_000001.10:g.153598814C>T, XM_011509862.4:c.135G>A, XM_011509862.3:c.135G>A, XM_011509862.2:c.135G>A, XM_011509862.1:c.135G>A, XM_005245434.4:c.135G>A, XM_005245434.3:c.135G>A, XM_005245434.2:c.135G>A, XM_005245434.1:c.135G>A, XM_017002035.3:c.135G>A, XM_017002035.2:c.135G>A, XM_017002035.1:c.135G>A, XM_017002034.3:c.135G>A, XM_017002034.2:c.135G>A, XM_017002034.1:c.135G>A, NM_005979.3:c.135G>A, NM_005979.2:c.135G>A, NM_001024210.2:c.135G>A, NM_001024210.1:c.135G>A, NM_001024213.2:c.135G>A, NM_001024213.1:c.135G>A, XM_017002036.2:c.135G>A, XM_017002036.1:c.135G>A, NM_001024212.2:c.135G>A, NM_001024212.1:c.135G>A, NM_001024211.2:c.135G>A, NM_001024211.1:c.135G>A, XM_047427409.1:c.135G>A, XM_047427401.1:c.135G>A, XM_047427439.1:c.135G>A, XM_047427444.1:c.135G>A, XM_047427445.1:c.135G>A, XM_047427407.1:c.135G>A, XM_047427408.1:c.135G>A, XM_047427410.1:c.135G>A, XM_047427406.1:c.135G>A, XM_047427433.1:c.135G>A, XM_047427404.1:c.135G>A, XM_047427435.1:c.135G>A, XM_047427413.1:c.135G>A, XM_047427446.1:c.135G>A, XM_047427417.1:c.135G>A, XM_047427419.1:c.135G>A

                          13.

                          rs1330484446 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:153626443 (GRCh38)
                            1:153598919 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:153626442:C:T
                            Gene:
                            S100A1 (Varview), S100A13 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.153626443C>T, NC_000001.10:g.153598919C>T, XM_011509862.4:c.30G>A, XM_011509862.3:c.30G>A, XM_011509862.2:c.30G>A, XM_011509862.1:c.30G>A, XM_005245434.4:c.30G>A, XM_005245434.3:c.30G>A, XM_005245434.2:c.30G>A, XM_005245434.1:c.30G>A, XM_017002035.3:c.30G>A, XM_017002035.2:c.30G>A, XM_017002035.1:c.30G>A, XM_017002034.3:c.30G>A, XM_017002034.2:c.30G>A, XM_017002034.1:c.30G>A, NM_005979.3:c.30G>A, NM_005979.2:c.30G>A, NM_001024210.2:c.30G>A, NM_001024210.1:c.30G>A, NM_001024213.2:c.30G>A, NM_001024213.1:c.30G>A, XM_017002036.2:c.30G>A, XM_017002036.1:c.30G>A, NM_001024212.2:c.30G>A, NM_001024212.1:c.30G>A, NM_001024211.2:c.30G>A, NM_001024211.1:c.30G>A, XM_047427409.1:c.30G>A, XM_047427401.1:c.30G>A, XM_047427439.1:c.30G>A, XM_047427444.1:c.30G>A, XM_047427445.1:c.30G>A, XM_047427407.1:c.30G>A, XM_047427408.1:c.30G>A, XM_047427410.1:c.30G>A, XM_047427406.1:c.30G>A, XM_047427433.1:c.30G>A, XM_047427404.1:c.30G>A, XM_047427435.1:c.30G>A, XM_047427413.1:c.30G>A, XM_047427446.1:c.30G>A, XM_047427417.1:c.30G>A, XM_047427419.1:c.30G>A

                            14.

                            rs1288795311 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:153626340 (GRCh38)
                              1:153598816 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:153626339:G:A
                              Gene:
                              S100A13 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.153626340G>A, NC_000001.10:g.153598816G>A, XM_011509862.4:c.133C>T, XM_011509862.3:c.133C>T, XM_011509862.2:c.133C>T, XM_011509862.1:c.133C>T, XM_005245434.4:c.133C>T, XM_005245434.3:c.133C>T, XM_005245434.2:c.133C>T, XM_005245434.1:c.133C>T, XM_017002035.3:c.133C>T, XM_017002035.2:c.133C>T, XM_017002035.1:c.133C>T, XM_017002034.3:c.133C>T, XM_017002034.2:c.133C>T, XM_017002034.1:c.133C>T, NM_005979.3:c.133C>T, NM_005979.2:c.133C>T, NM_001024210.2:c.133C>T, NM_001024210.1:c.133C>T, NM_001024213.2:c.133C>T, NM_001024213.1:c.133C>T, XM_017002036.2:c.133C>T, XM_017002036.1:c.133C>T, NM_001024212.2:c.133C>T, NM_001024212.1:c.133C>T, NM_001024211.2:c.133C>T, NM_001024211.1:c.133C>T, XM_047427409.1:c.133C>T, XM_047427401.1:c.133C>T, XM_047427439.1:c.133C>T, XM_047427444.1:c.133C>T, XM_047427445.1:c.133C>T, XM_047427407.1:c.133C>T, XM_047427408.1:c.133C>T, XM_047427410.1:c.133C>T, XM_047427406.1:c.133C>T, XM_047427433.1:c.133C>T, XM_047427404.1:c.133C>T, XM_047427435.1:c.133C>T, XM_047427413.1:c.133C>T, XM_047427446.1:c.133C>T, XM_047427417.1:c.133C>T, XM_047427419.1:c.133C>T, XP_011508164.1:p.Gln45Ter, XP_005245491.1:p.Gln45Ter, XP_016857524.1:p.Gln45Ter, XP_016857523.1:p.Gln45Ter, NP_005970.1:p.Gln45Ter, NP_001019381.1:p.Gln45Ter, NP_001019384.1:p.Gln45Ter, XP_016857525.1:p.Gln45Ter, NP_001019383.1:p.Gln45Ter, NP_001019382.1:p.Gln45Ter, XP_047283365.1:p.Gln45Ter, XP_047283357.1:p.Gln45Ter, XP_047283395.1:p.Gln45Ter, XP_047283400.1:p.Gln45Ter, XP_047283401.1:p.Gln45Ter, XP_047283363.1:p.Gln45Ter, XP_047283364.1:p.Gln45Ter, XP_047283366.1:p.Gln45Ter, XP_047283362.1:p.Gln45Ter, XP_047283389.1:p.Gln45Ter, XP_047283360.1:p.Gln45Ter, XP_047283391.1:p.Gln45Ter, XP_047283369.1:p.Gln45Ter, XP_047283402.1:p.Gln45Ter, XP_047283373.1:p.Gln45Ter, XP_047283375.1:p.Gln45Ter

                              15.

                              rs1283885643 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                1:153618986 (GRCh38)
                                1:153591462 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:153618985:G:A,NC_000001.11:153618985:G:C
                                Gene:
                                S100A13 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000028/1 (ALFA)
                                C=0.000004/1 (TOPMED)
                                A=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.153618986G>A, NC_000001.11:g.153618986G>C, NC_000001.10:g.153591462G>A, NC_000001.10:g.153591462G>C, XM_011509862.4:c.206C>T, XM_011509862.4:c.206C>G, XM_011509862.3:c.206C>T, XM_011509862.3:c.206C>G, XM_011509862.2:c.206C>T, XM_011509862.2:c.206C>G, XM_011509862.1:c.206C>T, XM_011509862.1:c.206C>G, XM_005245434.4:c.206C>T, XM_005245434.4:c.206C>G, XM_005245434.3:c.206C>T, XM_005245434.3:c.206C>G, XM_005245434.2:c.206C>T, XM_005245434.2:c.206C>G, XM_005245434.1:c.206C>T, XM_005245434.1:c.206C>G, XM_017002035.3:c.206C>T, XM_017002035.3:c.206C>G, XM_017002035.2:c.206C>T, XM_017002035.2:c.206C>G, XM_017002035.1:c.206C>T, XM_017002035.1:c.206C>G, XM_017002034.3:c.206C>T, XM_017002034.3:c.206C>G, XM_017002034.2:c.206C>T, XM_017002034.2:c.206C>G, XM_017002034.1:c.206C>T, XM_017002034.1:c.206C>G, NM_005979.3:c.206C>T, NM_005979.3:c.206C>G, NM_005979.2:c.206C>T, NM_005979.2:c.206C>G, NM_001024210.2:c.206C>T, NM_001024210.2:c.206C>G, NM_001024210.1:c.206C>T, NM_001024210.1:c.206C>G, NM_001024213.2:c.206C>T, NM_001024213.2:c.206C>G, NM_001024213.1:c.206C>T, NM_001024213.1:c.206C>G, XM_017002036.2:c.206C>T, XM_017002036.2:c.206C>G, XM_017002036.1:c.206C>T, XM_017002036.1:c.206C>G, NM_001024212.2:c.206C>T, NM_001024212.2:c.206C>G, NM_001024212.1:c.206C>T, NM_001024212.1:c.206C>G, NM_001024211.2:c.206C>T, NM_001024211.2:c.206C>G, NM_001024211.1:c.206C>T, NM_001024211.1:c.206C>G, XM_047427409.1:c.206C>T, XM_047427409.1:c.206C>G, XM_047427401.1:c.206C>T, XM_047427401.1:c.206C>G, XM_047427439.1:c.206C>T, XM_047427439.1:c.206C>G, XM_047427444.1:c.206C>T, XM_047427444.1:c.206C>G, XM_047427445.1:c.206C>T, XM_047427445.1:c.206C>G, XM_047427407.1:c.206C>T, XM_047427407.1:c.206C>G, XM_047427408.1:c.206C>T, XM_047427408.1:c.206C>G, XM_047427410.1:c.206C>T, XM_047427410.1:c.206C>G, XM_047427406.1:c.206C>T, XM_047427406.1:c.206C>G, XM_047427433.1:c.206C>T, XM_047427433.1:c.206C>G, XM_047427404.1:c.206C>T, XM_047427404.1:c.206C>G, XM_047427435.1:c.206C>T, XM_047427435.1:c.206C>G, XM_047427413.1:c.206C>T, XM_047427413.1:c.206C>G, XM_047427446.1:c.206C>T, XM_047427446.1:c.206C>G, XM_047427417.1:c.206C>T, XM_047427417.1:c.206C>G, XM_047427419.1:c.206C>T, XM_047427419.1:c.206C>G, XP_011508164.1:p.Ser69Leu, XP_011508164.1:p.Ser69Trp, XP_005245491.1:p.Ser69Leu, XP_005245491.1:p.Ser69Trp, XP_016857524.1:p.Ser69Leu, XP_016857524.1:p.Ser69Trp, XP_016857523.1:p.Ser69Leu, XP_016857523.1:p.Ser69Trp, NP_005970.1:p.Ser69Leu, NP_005970.1:p.Ser69Trp, NP_001019381.1:p.Ser69Leu, NP_001019381.1:p.Ser69Trp, NP_001019384.1:p.Ser69Leu, NP_001019384.1:p.Ser69Trp, XP_016857525.1:p.Ser69Leu, XP_016857525.1:p.Ser69Trp, NP_001019383.1:p.Ser69Leu, NP_001019383.1:p.Ser69Trp, NP_001019382.1:p.Ser69Leu, NP_001019382.1:p.Ser69Trp, XP_047283365.1:p.Ser69Leu, XP_047283365.1:p.Ser69Trp, XP_047283357.1:p.Ser69Leu, XP_047283357.1:p.Ser69Trp, XP_047283395.1:p.Ser69Leu, XP_047283395.1:p.Ser69Trp, XP_047283400.1:p.Ser69Leu, XP_047283400.1:p.Ser69Trp, XP_047283401.1:p.Ser69Leu, XP_047283401.1:p.Ser69Trp, XP_047283363.1:p.Ser69Leu, XP_047283363.1:p.Ser69Trp, XP_047283364.1:p.Ser69Leu, XP_047283364.1:p.Ser69Trp, XP_047283366.1:p.Ser69Leu, XP_047283366.1:p.Ser69Trp, XP_047283362.1:p.Ser69Leu, XP_047283362.1:p.Ser69Trp, XP_047283389.1:p.Ser69Leu, XP_047283389.1:p.Ser69Trp, XP_047283360.1:p.Ser69Leu, XP_047283360.1:p.Ser69Trp, XP_047283391.1:p.Ser69Leu, XP_047283391.1:p.Ser69Trp, XP_047283369.1:p.Ser69Leu, XP_047283369.1:p.Ser69Trp, XP_047283402.1:p.Ser69Leu, XP_047283402.1:p.Ser69Trp, XP_047283373.1:p.Ser69Leu, XP_047283373.1:p.Ser69Trp, XP_047283375.1:p.Ser69Leu, XP_047283375.1:p.Ser69Trp

                                16.

                                rs1263611071 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:153618902 (GRCh38)
                                  1:153591378 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:153618901:T:C
                                  Gene:
                                  S100A13 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.153618902T>C, NC_000001.10:g.153591378T>C, XM_011509862.4:c.290A>G, XM_011509862.3:c.290A>G, XM_011509862.2:c.290A>G, XM_011509862.1:c.290A>G, XM_005245434.4:c.290A>G, XM_005245434.3:c.290A>G, XM_005245434.2:c.290A>G, XM_005245434.1:c.290A>G, XM_017002035.3:c.290A>G, XM_017002035.2:c.290A>G, XM_017002035.1:c.290A>G, XM_017002034.3:c.290A>G, XM_017002034.2:c.290A>G, XM_017002034.1:c.290A>G, NM_005979.3:c.290A>G, NM_005979.2:c.290A>G, NM_001024210.2:c.290A>G, NM_001024210.1:c.290A>G, NM_001024213.2:c.290A>G, NM_001024213.1:c.290A>G, XM_017002036.2:c.290A>G, XM_017002036.1:c.290A>G, NM_001024212.2:c.290A>G, NM_001024212.1:c.290A>G, NM_001024211.2:c.290A>G, NM_001024211.1:c.290A>G, XM_047427409.1:c.290A>G, XM_047427401.1:c.290A>G, XM_047427439.1:c.290A>G, XM_047427444.1:c.290A>G, XM_047427445.1:c.290A>G, XM_047427407.1:c.290A>G, XM_047427408.1:c.290A>G, XM_047427410.1:c.290A>G, XM_047427406.1:c.290A>G, XM_047427433.1:c.290A>G, XM_047427404.1:c.290A>G, XM_047427435.1:c.290A>G, XM_047427413.1:c.290A>G, XM_047427446.1:c.290A>G, XM_047427417.1:c.290A>G, XM_047427419.1:c.290A>G, XP_011508164.1:p.Lys97Arg, XP_005245491.1:p.Lys97Arg, XP_016857524.1:p.Lys97Arg, XP_016857523.1:p.Lys97Arg, NP_005970.1:p.Lys97Arg, NP_001019381.1:p.Lys97Arg, NP_001019384.1:p.Lys97Arg, XP_016857525.1:p.Lys97Arg, NP_001019383.1:p.Lys97Arg, NP_001019382.1:p.Lys97Arg, XP_047283365.1:p.Lys97Arg, XP_047283357.1:p.Lys97Arg, XP_047283395.1:p.Lys97Arg, XP_047283400.1:p.Lys97Arg, XP_047283401.1:p.Lys97Arg, XP_047283363.1:p.Lys97Arg, XP_047283364.1:p.Lys97Arg, XP_047283366.1:p.Lys97Arg, XP_047283362.1:p.Lys97Arg, XP_047283389.1:p.Lys97Arg, XP_047283360.1:p.Lys97Arg, XP_047283391.1:p.Lys97Arg, XP_047283369.1:p.Lys97Arg, XP_047283402.1:p.Lys97Arg, XP_047283373.1:p.Lys97Arg, XP_047283375.1:p.Lys97Arg

                                  17.

                                  rs1261750911 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    1:153626385 (GRCh38)
                                    1:153598861 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:153626384:T:G
                                    Gene:
                                    S100A13 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.153626385T>G, NC_000001.10:g.153598861T>G, XM_011509862.4:c.88A>C, XM_011509862.3:c.88A>C, XM_011509862.2:c.88A>C, XM_011509862.1:c.88A>C, XM_005245434.4:c.88A>C, XM_005245434.3:c.88A>C, XM_005245434.2:c.88A>C, XM_005245434.1:c.88A>C, XM_017002035.3:c.88A>C, XM_017002035.2:c.88A>C, XM_017002035.1:c.88A>C, XM_017002034.3:c.88A>C, XM_017002034.2:c.88A>C, XM_017002034.1:c.88A>C, NM_005979.3:c.88A>C, NM_005979.2:c.88A>C, NM_001024210.2:c.88A>C, NM_001024210.1:c.88A>C, NM_001024213.2:c.88A>C, NM_001024213.1:c.88A>C, XM_017002036.2:c.88A>C, XM_017002036.1:c.88A>C, NM_001024212.2:c.88A>C, NM_001024212.1:c.88A>C, NM_001024211.2:c.88A>C, NM_001024211.1:c.88A>C, XM_047427409.1:c.88A>C, XM_047427401.1:c.88A>C, XM_047427439.1:c.88A>C, XM_047427444.1:c.88A>C, XM_047427445.1:c.88A>C, XM_047427407.1:c.88A>C, XM_047427408.1:c.88A>C, XM_047427410.1:c.88A>C, XM_047427406.1:c.88A>C, XM_047427433.1:c.88A>C, XM_047427404.1:c.88A>C, XM_047427435.1:c.88A>C, XM_047427413.1:c.88A>C, XM_047427446.1:c.88A>C, XM_047427417.1:c.88A>C, XM_047427419.1:c.88A>C, XP_011508164.1:p.Lys30Gln, XP_005245491.1:p.Lys30Gln, XP_016857524.1:p.Lys30Gln, XP_016857523.1:p.Lys30Gln, NP_005970.1:p.Lys30Gln, NP_001019381.1:p.Lys30Gln, NP_001019384.1:p.Lys30Gln, XP_016857525.1:p.Lys30Gln, NP_001019383.1:p.Lys30Gln, NP_001019382.1:p.Lys30Gln, XP_047283365.1:p.Lys30Gln, XP_047283357.1:p.Lys30Gln, XP_047283395.1:p.Lys30Gln, XP_047283400.1:p.Lys30Gln, XP_047283401.1:p.Lys30Gln, XP_047283363.1:p.Lys30Gln, XP_047283364.1:p.Lys30Gln, XP_047283366.1:p.Lys30Gln, XP_047283362.1:p.Lys30Gln, XP_047283389.1:p.Lys30Gln, XP_047283360.1:p.Lys30Gln, XP_047283391.1:p.Lys30Gln, XP_047283369.1:p.Lys30Gln, XP_047283402.1:p.Lys30Gln, XP_047283373.1:p.Lys30Gln, XP_047283375.1:p.Lys30Gln

                                    18.

                                    rs1257581794 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:153626437 (GRCh38)
                                      1:153598913 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:153626436:G:A
                                      Gene:
                                      S100A1 (Varview), S100A13 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,2KB_upstream_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_000001.11:g.153626437G>A, NC_000001.10:g.153598913G>A, XM_011509862.4:c.36C>T, XM_011509862.3:c.36C>T, XM_011509862.2:c.36C>T, XM_011509862.1:c.36C>T, XM_005245434.4:c.36C>T, XM_005245434.3:c.36C>T, XM_005245434.2:c.36C>T, XM_005245434.1:c.36C>T, XM_017002035.3:c.36C>T, XM_017002035.2:c.36C>T, XM_017002035.1:c.36C>T, XM_017002034.3:c.36C>T, XM_017002034.2:c.36C>T, XM_017002034.1:c.36C>T, NM_005979.3:c.36C>T, NM_005979.2:c.36C>T, NM_001024210.2:c.36C>T, NM_001024210.1:c.36C>T, NM_001024213.2:c.36C>T, NM_001024213.1:c.36C>T, XM_017002036.2:c.36C>T, XM_017002036.1:c.36C>T, NM_001024212.2:c.36C>T, NM_001024212.1:c.36C>T, NM_001024211.2:c.36C>T, NM_001024211.1:c.36C>T, XM_047427409.1:c.36C>T, XM_047427401.1:c.36C>T, XM_047427439.1:c.36C>T, XM_047427444.1:c.36C>T, XM_047427445.1:c.36C>T, XM_047427407.1:c.36C>T, XM_047427408.1:c.36C>T, XM_047427410.1:c.36C>T, XM_047427406.1:c.36C>T, XM_047427433.1:c.36C>T, XM_047427404.1:c.36C>T, XM_047427435.1:c.36C>T, XM_047427413.1:c.36C>T, XM_047427446.1:c.36C>T, XM_047427417.1:c.36C>T, XM_047427419.1:c.36C>T

                                      19.

                                      rs1257075195 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:153626425 (GRCh38)
                                        1:153598901 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:153626424:C:T
                                        Gene:
                                        S100A13 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.153626425C>T, NC_000001.10:g.153598901C>T, XM_011509862.4:c.48G>A, XM_011509862.3:c.48G>A, XM_011509862.2:c.48G>A, XM_011509862.1:c.48G>A, XM_005245434.4:c.48G>A, XM_005245434.3:c.48G>A, XM_005245434.2:c.48G>A, XM_005245434.1:c.48G>A, XM_017002035.3:c.48G>A, XM_017002035.2:c.48G>A, XM_017002035.1:c.48G>A, XM_017002034.3:c.48G>A, XM_017002034.2:c.48G>A, XM_017002034.1:c.48G>A, NM_005979.3:c.48G>A, NM_005979.2:c.48G>A, NM_001024210.2:c.48G>A, NM_001024210.1:c.48G>A, NM_001024213.2:c.48G>A, NM_001024213.1:c.48G>A, XM_017002036.2:c.48G>A, XM_017002036.1:c.48G>A, NM_001024212.2:c.48G>A, NM_001024212.1:c.48G>A, NM_001024211.2:c.48G>A, NM_001024211.1:c.48G>A, XM_047427409.1:c.48G>A, XM_047427401.1:c.48G>A, XM_047427439.1:c.48G>A, XM_047427444.1:c.48G>A, XM_047427445.1:c.48G>A, XM_047427407.1:c.48G>A, XM_047427408.1:c.48G>A, XM_047427410.1:c.48G>A, XM_047427406.1:c.48G>A, XM_047427433.1:c.48G>A, XM_047427404.1:c.48G>A, XM_047427435.1:c.48G>A, XM_047427413.1:c.48G>A, XM_047427446.1:c.48G>A, XM_047427417.1:c.48G>A, XM_047427419.1:c.48G>A

                                        20.

                                        rs1246283667 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:153619000 (GRCh38)
                                          1:153591476 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:153618999:A:G
                                          Gene:
                                          S100A13 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000008/2 (GnomAD_exomes)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.153619000A>G, NC_000001.10:g.153591476A>G, XM_011509862.4:c.192T>C, XM_011509862.3:c.192T>C, XM_011509862.2:c.192T>C, XM_011509862.1:c.192T>C, XM_005245434.4:c.192T>C, XM_005245434.3:c.192T>C, XM_005245434.2:c.192T>C, XM_005245434.1:c.192T>C, XM_017002035.3:c.192T>C, XM_017002035.2:c.192T>C, XM_017002035.1:c.192T>C, XM_017002034.3:c.192T>C, XM_017002034.2:c.192T>C, XM_017002034.1:c.192T>C, NM_005979.3:c.192T>C, NM_005979.2:c.192T>C, NM_001024210.2:c.192T>C, NM_001024210.1:c.192T>C, NM_001024213.2:c.192T>C, NM_001024213.1:c.192T>C, XM_017002036.2:c.192T>C, XM_017002036.1:c.192T>C, NM_001024212.2:c.192T>C, NM_001024212.1:c.192T>C, NM_001024211.2:c.192T>C, NM_001024211.1:c.192T>C, XM_047427409.1:c.192T>C, XM_047427401.1:c.192T>C, XM_047427439.1:c.192T>C, XM_047427444.1:c.192T>C, XM_047427445.1:c.192T>C, XM_047427407.1:c.192T>C, XM_047427408.1:c.192T>C, XM_047427410.1:c.192T>C, XM_047427406.1:c.192T>C, XM_047427433.1:c.192T>C, XM_047427404.1:c.192T>C, XM_047427435.1:c.192T>C, XM_047427413.1:c.192T>C, XM_047427446.1:c.192T>C, XM_047427417.1:c.192T>C, XM_047427419.1:c.192T>C

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