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Items: 1 to 20 of 723

1.

rs1490773112 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    1:66682058 (GRCh38)
    1:67147741 (GRCh37)
    Canonical SPDI:
    NC_000001.11:66682057:C:A
    Gene:
    SGIP1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.66682058C>A, NC_000001.10:g.67147741C>A, NM_032291.4:c.1004C>A, NM_032291.3:c.1004C>A, NM_032291.2:c.1004C>A, XM_006710961.3:c.1016C>A, XM_006710961.2:c.1016C>A, XM_006710961.1:c.1016C>A, XM_017002505.2:c.1004C>A, XM_017002505.1:c.1004C>A, XM_017002507.2:c.1001C>A, XM_017002507.1:c.1001C>A, XM_017002506.2:c.1004C>A, XM_017002506.1:c.1004C>A, XM_017002508.2:c.1001C>A, XM_017002508.1:c.1001C>A, XM_017002510.2:c.980C>A, XM_017002510.1:c.980C>A, NM_001350217.2:c.1016C>A, NM_001350217.1:c.1016C>A, XM_017002515.2:c.908C>A, XM_017002515.1:c.908C>A, XM_017002516.2:c.908C>A, XM_017002516.1:c.908C>A, NM_001376542.1:c.932C>A, NM_001376537.1:c.932C>A, NM_001376534.1:c.1004C>A, XM_047432051.1:c.932C>A, XM_047432052.1:c.977C>A, NM_001376535.1:c.1004C>A, NM_001376538.1:c.1016C>A, NM_001376540.1:c.1004C>A, NM_001376543.1:c.932C>A, NM_001376539.1:c.1004C>A, NM_001376541.1:c.932C>A, NM_001376544.1:c.932C>A, NM_001376545.1:c.932C>A, XR_007064415.1:n.1222C>A, NM_001376556.1:c.932C>A, NP_115667.2:p.Ser335Tyr, XP_006711024.1:p.Ser339Tyr, XP_016857994.1:p.Ser335Tyr, XP_016857996.1:p.Ser334Tyr, XP_016857995.1:p.Ser335Tyr, XP_016857997.1:p.Ser334Tyr, XP_016857999.1:p.Ser327Tyr, NP_001337146.1:p.Ser339Tyr, XP_016858004.1:p.Ser303Tyr, XP_016858005.1:p.Ser303Tyr, NP_001363471.1:p.Ser311Tyr, NP_001363466.1:p.Ser311Tyr, NP_001363463.1:p.Ser335Tyr, XP_047288007.1:p.Ser311Tyr, XP_047288008.1:p.Ser326Tyr, NP_001363464.1:p.Ser335Tyr, NP_001363467.1:p.Ser339Tyr, NP_001363469.1:p.Ser335Tyr, NP_001363472.1:p.Ser311Tyr, NP_001363468.1:p.Ser335Tyr, NP_001363470.1:p.Ser311Tyr, NP_001363473.1:p.Ser311Tyr, NP_001363474.1:p.Ser311Tyr, NP_001363485.1:p.Ser311Tyr

    2.

    rs1489001350 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:66682338 (GRCh38)
      1:67148021 (GRCh37)
      Canonical SPDI:
      NC_000001.11:66682337:T:C
      Gene:
      SGIP1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.000111/1 (ALFA)
      C=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.66682338T>C, NC_000001.10:g.67148021T>C, NM_032291.4:c.1284T>C, NM_032291.3:c.1284T>C, NM_032291.2:c.1284T>C, XM_006710961.3:c.1296T>C, XM_006710961.2:c.1296T>C, XM_006710961.1:c.1296T>C, XM_017002505.2:c.1284T>C, XM_017002505.1:c.1284T>C, XM_017002507.2:c.1281T>C, XM_017002507.1:c.1281T>C, XM_017002506.2:c.1284T>C, XM_017002506.1:c.1284T>C, XM_017002508.2:c.1281T>C, XM_017002508.1:c.1281T>C, XM_017002510.2:c.1260T>C, XM_017002510.1:c.1260T>C, NM_001350217.2:c.1296T>C, NM_001350217.1:c.1296T>C, XM_017002515.2:c.1188T>C, XM_017002515.1:c.1188T>C, XM_017002516.2:c.1188T>C, XM_017002516.1:c.1188T>C, NM_001376542.1:c.1212T>C, NM_001376537.1:c.1212T>C, NM_001376534.1:c.1284T>C, XM_047432051.1:c.1212T>C, XM_047432052.1:c.1257T>C, NM_001376535.1:c.1284T>C, NM_001376538.1:c.1296T>C, NM_001376540.1:c.1284T>C, NM_001376543.1:c.1212T>C, NM_001376539.1:c.1284T>C, NM_001376541.1:c.1212T>C, NM_001376544.1:c.1212T>C, NM_001376545.1:c.1212T>C, XR_007064415.1:n.1502T>C, NM_001376556.1:c.1212T>C

      3.

      rs1488969653 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        1:66679718 (GRCh38)
        1:67145401 (GRCh37)
        Canonical SPDI:
        NC_000001.11:66679717:A:T
        Gene:
        SGIP1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000001.11:g.66679718A>T, NC_000001.10:g.67145401A>T, XM_005271270.5:c.684A>T, XM_005271270.4:c.684A>T, XM_005271270.3:c.684A>T, XM_005271270.2:c.684A>T, XM_005271270.1:c.684A>T, NM_032291.4:c.780A>T, NM_032291.3:c.780A>T, NM_032291.2:c.780A>T, XM_006710961.3:c.792A>T, XM_006710961.2:c.792A>T, XM_006710961.1:c.792A>T, XM_006710971.3:c.792A>T, XM_006710971.2:c.792A>T, XM_006710971.1:c.792A>T, XM_006710973.3:c.768A>T, XM_006710973.2:c.768A>T, XM_006710973.1:c.768A>T, XM_017002505.2:c.780A>T, XM_017002505.1:c.780A>T, XM_017002507.2:c.777A>T, XM_017002507.1:c.777A>T, XM_017002506.2:c.780A>T, XM_017002506.1:c.780A>T, XM_017002508.2:c.777A>T, XM_017002508.1:c.777A>T, XM_017002510.2:c.756A>T, XM_017002510.1:c.756A>T, NM_001350217.2:c.792A>T, NM_001350217.1:c.792A>T, XM_017002515.2:c.684A>T, XM_017002515.1:c.684A>T, XM_017002516.2:c.684A>T, XM_017002516.1:c.684A>T, XM_017002524.2:c.756A>T, XM_017002524.1:c.756A>T, XM_011542291.2:c.777A>T, XM_011542291.1:c.777A>T, XM_017002528.2:c.684A>T, XM_017002528.1:c.684A>T, XM_017002529.2:c.792A>T, XM_017002529.1:c.792A>T, XM_011542292.2:c.777A>T, XM_011542292.1:c.777A>T, NM_001350218.2:c.708A>T, NM_001350218.1:c.708A>T, NM_001308203.2:c.684A>T, NM_001308203.1:c.684A>T, NM_001376542.1:c.708A>T, NM_001376537.1:c.708A>T, NM_001376534.1:c.780A>T, XM_047432051.1:c.708A>T, XM_047432052.1:c.753A>T, NM_001376535.1:c.780A>T, NM_001376538.1:c.792A>T, NM_001376540.1:c.780A>T, NM_001376543.1:c.708A>T, NM_001376539.1:c.780A>T, NM_001376541.1:c.708A>T, NM_001376544.1:c.708A>T, NM_001376545.1:c.708A>T, XM_047432054.1:c.756A>T, XM_047432058.1:c.756A>T, NM_001376546.1:c.792A>T, XM_047432053.1:c.768A>T, NM_001376548.1:c.756A>T, XM_047432056.1:c.753A>T, NM_001376547.1:c.756A>T, XM_047432055.1:c.756A>T, NM_001376549.1:c.756A>T, XM_047432057.1:c.768A>T, XM_047432060.1:c.753A>T, NM_001376536.1:c.684A>T, NM_001376552.1:c.684A>T, NM_001376550.1:c.756A>T, NM_001376551.1:c.684A>T, XM_047432059.1:c.756A>T, NM_001376555.1:c.684A>T, NM_001376554.1:c.684A>T, XR_007064415.1:n.998A>T, NM_001376556.1:c.708A>T, NM_001376557.1:c.756A>T, XM_047432061.1:c.756A>T

        4.

        rs1487244174 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:66733815 (GRCh38)
          1:67199498 (GRCh37)
          Canonical SPDI:
          NC_000001.11:66733814:C:T
          Gene:
          SGIP1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
          HGVS:
          NC_000001.11:g.66733815C>T, NC_000001.10:g.67199498C>T, XM_005271270.5:c.1369C>T, XM_005271270.4:c.1369C>T, XM_005271270.3:c.1369C>T, XM_005271270.2:c.1369C>T, XM_005271270.1:c.1369C>T, NM_032291.4:c.1966C>T, NM_032291.3:c.1966C>T, NM_032291.2:c.1966C>T, XM_006710961.3:c.1984C>T, XM_006710961.2:c.1984C>T, XM_006710961.1:c.1984C>T, XM_006710971.3:c.1483C>T, XM_006710971.2:c.1483C>T, XM_006710971.1:c.1483C>T, XM_006710973.3:c.1459C>T, XM_006710973.2:c.1459C>T, XM_006710973.1:c.1459C>T, XM_017002505.2:c.2032C>T, XM_017002505.1:c.2032C>T, XM_017002507.2:c.2029C>T, XM_017002507.1:c.2029C>T, XM_017002506.2:c.2032C>T, XM_017002506.1:c.2032C>T, XM_017002508.2:c.2029C>T, XM_017002508.1:c.2029C>T, XM_017002510.2:c.2008C>T, XM_017002510.1:c.2008C>T, NM_001350217.2:c.1978C>T, NM_001350217.1:c.1978C>T, XM_017002515.2:c.1936C>T, XM_017002515.1:c.1936C>T, XM_017002516.2:c.1936C>T, XM_017002516.1:c.1936C>T, XM_017002524.2:c.1507C>T, XM_017002524.1:c.1507C>T, XM_011542291.2:c.1462C>T, XM_011542291.1:c.1462C>T, XM_017002528.2:c.1435C>T, XM_017002528.1:c.1435C>T, XM_017002529.2:c.1417C>T, XM_017002529.1:c.1417C>T, XM_011542292.2:c.1402C>T, XM_011542292.1:c.1402C>T, NM_001350218.2:c.1393C>T, NM_001350218.1:c.1393C>T, NM_001308203.2:c.1375C>T, NM_001308203.1:c.1375C>T, NM_001376542.1:c.1894C>T, NM_001376537.1:c.1960C>T, NM_001376534.1:c.1966C>T, XM_047432051.1:c.1960C>T, XM_047432052.1:c.1939C>T, NM_001376535.1:c.1966C>T, NM_001376538.1:c.1918C>T, NM_001376540.1:c.1906C>T, NM_001376543.1:c.1894C>T, NM_001376539.1:c.1906C>T, NM_001376541.1:c.1894C>T, NM_001376544.1:c.1834C>T, NM_001376545.1:c.1834C>T, XM_047432054.1:c.1441C>T, XM_047432058.1:c.1381C>T, NM_001376546.1:c.1477C>T, XM_047432053.1:c.1453C>T, NM_001376548.1:c.1441C>T, XM_047432056.1:c.1438C>T, NM_001376547.1:c.1447C>T, XM_047432055.1:c.1441C>T, NM_001376549.1:c.1441C>T, XM_047432057.1:c.1393C>T, XM_047432060.1:c.1378C>T, NM_001376536.1:c.1375C>T, NM_001376552.1:c.1369C>T, NM_001376550.1:c.1381C>T, NM_001376551.1:c.1369C>T, XM_047432059.1:c.1381C>T, NM_001376555.1:c.1309C>T, NM_001376554.1:c.1309C>T

          5.

          rs1485870837 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            1:66639800 (GRCh38)
            1:67105483 (GRCh37)
            Canonical SPDI:
            NC_000001.11:66639799:T:A
            Gene:
            SGIP1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000111/1 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.66639800T>A, NC_000001.10:g.67105483T>A, XM_005271270.5:c.123T>A, XM_005271270.4:c.123T>A, XM_005271270.3:c.123T>A, XM_005271270.2:c.123T>A, XM_005271270.1:c.123T>A, NM_032291.4:c.195T>A, NM_032291.3:c.195T>A, NM_032291.2:c.195T>A, XM_006710961.3:c.207T>A, XM_006710961.2:c.207T>A, XM_006710961.1:c.207T>A, XM_006710971.3:c.207T>A, XM_006710971.2:c.207T>A, XM_006710971.1:c.207T>A, XM_006710973.3:c.207T>A, XM_006710973.2:c.207T>A, XM_006710973.1:c.207T>A, XM_017002505.2:c.195T>A, XM_017002505.1:c.195T>A, XM_017002507.2:c.192T>A, XM_017002507.1:c.192T>A, XM_017002506.2:c.195T>A, XM_017002506.1:c.195T>A, XM_017002508.2:c.192T>A, XM_017002508.1:c.192T>A, XM_017002510.2:c.195T>A, XM_017002510.1:c.195T>A, NM_001350217.2:c.207T>A, NM_001350217.1:c.207T>A, XM_017002515.2:c.123T>A, XM_017002515.1:c.123T>A, XM_017002516.2:c.123T>A, XM_017002516.1:c.123T>A, XM_017002524.2:c.195T>A, XM_017002524.1:c.195T>A, XM_011542291.2:c.192T>A, XM_011542291.1:c.192T>A, XM_017002528.2:c.123T>A, XM_017002528.1:c.123T>A, XM_017002529.2:c.207T>A, XM_017002529.1:c.207T>A, XM_011542292.2:c.192T>A, XM_011542292.1:c.192T>A, NM_001350218.2:c.123T>A, NM_001350218.1:c.123T>A, NM_001308203.2:c.123T>A, NM_001308203.1:c.123T>A, NM_001376542.1:c.123T>A, NM_001376537.1:c.123T>A, NM_001376534.1:c.195T>A, XM_047432051.1:c.123T>A, XM_047432052.1:c.192T>A, NM_001376535.1:c.195T>A, NM_001376538.1:c.207T>A, NM_001376540.1:c.195T>A, NM_001376543.1:c.123T>A, NM_001376539.1:c.195T>A, NM_001376541.1:c.123T>A, NM_001376544.1:c.123T>A, NM_001376545.1:c.123T>A, XM_047432054.1:c.195T>A, XM_047432058.1:c.195T>A, NM_001376546.1:c.207T>A, XM_047432053.1:c.207T>A, NM_001376548.1:c.195T>A, XM_047432056.1:c.192T>A, NM_001376547.1:c.195T>A, XM_047432055.1:c.195T>A, NM_001376549.1:c.195T>A, XM_047432057.1:c.207T>A, XM_047432060.1:c.192T>A, NM_001376536.1:c.123T>A, NM_001376552.1:c.123T>A, NM_001376550.1:c.195T>A, NM_001376551.1:c.123T>A, XM_047432059.1:c.195T>A, NM_001376555.1:c.123T>A, NM_001376554.1:c.123T>A, XR_007064415.1:n.413T>A, NM_001376556.1:c.123T>A, NM_001376557.1:c.195T>A, XM_047432061.1:c.195T>A, XP_005271327.1:p.Asn41Lys, NP_115667.2:p.Asn65Lys, XP_006711024.1:p.Asn69Lys, XP_006711034.1:p.Asn69Lys, XP_006711036.1:p.Asn69Lys, XP_016857994.1:p.Asn65Lys, XP_016857996.1:p.Asn64Lys, XP_016857995.1:p.Asn65Lys, XP_016857997.1:p.Asn64Lys, XP_016857999.1:p.Asn65Lys, NP_001337146.1:p.Asn69Lys, XP_016858004.1:p.Asn41Lys, XP_016858005.1:p.Asn41Lys, XP_016858013.1:p.Asn65Lys, XP_011540593.1:p.Asn64Lys, XP_016858017.1:p.Asn41Lys, XP_016858018.1:p.Asn69Lys, XP_011540594.1:p.Asn64Lys, NP_001337147.1:p.Asn41Lys, NP_001295132.1:p.Asn41Lys, NP_001363471.1:p.Asn41Lys, NP_001363466.1:p.Asn41Lys, NP_001363463.1:p.Asn65Lys, XP_047288007.1:p.Asn41Lys, XP_047288008.1:p.Asn64Lys, NP_001363464.1:p.Asn65Lys, NP_001363467.1:p.Asn69Lys, NP_001363469.1:p.Asn65Lys, NP_001363472.1:p.Asn41Lys, NP_001363468.1:p.Asn65Lys, NP_001363470.1:p.Asn41Lys, NP_001363473.1:p.Asn41Lys, NP_001363474.1:p.Asn41Lys, XP_047288010.1:p.Asn65Lys, XP_047288014.1:p.Asn65Lys, NP_001363475.1:p.Asn69Lys, XP_047288009.1:p.Asn69Lys, NP_001363477.1:p.Asn65Lys, XP_047288012.1:p.Asn64Lys, NP_001363476.1:p.Asn65Lys, XP_047288011.1:p.Asn65Lys, NP_001363478.1:p.Asn65Lys, XP_047288013.1:p.Asn69Lys, XP_047288016.1:p.Asn64Lys, NP_001363465.1:p.Asn41Lys, NP_001363481.1:p.Asn41Lys, NP_001363479.1:p.Asn65Lys, NP_001363480.1:p.Asn41Lys, XP_047288015.1:p.Asn65Lys, NP_001363484.1:p.Asn41Lys, NP_001363483.1:p.Asn41Lys, NP_001363485.1:p.Asn41Lys, NP_001363486.1:p.Asn65Lys, XP_047288017.1:p.Asn65Lys

            6.

            rs1485040923 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:66643669 (GRCh38)
              1:67109352 (GRCh37)
              Canonical SPDI:
              NC_000001.11:66643668:G:A
              Gene:
              SGIP1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000047/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.66643669G>A, NC_000001.10:g.67109352G>A, XM_005271270.5:c.337G>A, XM_005271270.4:c.337G>A, XM_005271270.3:c.337G>A, XM_005271270.2:c.337G>A, XM_005271270.1:c.337G>A, NM_032291.4:c.409G>A, NM_032291.3:c.409G>A, NM_032291.2:c.409G>A, XM_006710961.3:c.421G>A, XM_006710961.2:c.421G>A, XM_006710961.1:c.421G>A, XM_006710971.3:c.421G>A, XM_006710971.2:c.421G>A, XM_006710971.1:c.421G>A, XM_006710973.3:c.421G>A, XM_006710973.2:c.421G>A, XM_006710973.1:c.421G>A, XM_017002505.2:c.409G>A, XM_017002505.1:c.409G>A, XM_017002507.2:c.406G>A, XM_017002507.1:c.406G>A, XM_017002506.2:c.409G>A, XM_017002506.1:c.409G>A, XM_017002508.2:c.406G>A, XM_017002508.1:c.406G>A, XM_017002510.2:c.409G>A, XM_017002510.1:c.409G>A, NM_001350217.2:c.421G>A, NM_001350217.1:c.421G>A, XM_017002515.2:c.337G>A, XM_017002515.1:c.337G>A, XM_017002516.2:c.337G>A, XM_017002516.1:c.337G>A, XM_017002524.2:c.409G>A, XM_017002524.1:c.409G>A, XM_011542291.2:c.406G>A, XM_011542291.1:c.406G>A, XM_017002528.2:c.337G>A, XM_017002528.1:c.337G>A, XM_017002529.2:c.421G>A, XM_017002529.1:c.421G>A, XM_011542292.2:c.406G>A, XM_011542292.1:c.406G>A, NM_001350218.2:c.337G>A, NM_001350218.1:c.337G>A, NM_001308203.2:c.337G>A, NM_001308203.1:c.337G>A, NM_001376542.1:c.337G>A, NM_001376537.1:c.337G>A, NM_001376534.1:c.409G>A, XM_047432051.1:c.337G>A, XM_047432052.1:c.406G>A, NM_001376535.1:c.409G>A, NM_001376538.1:c.421G>A, NM_001376540.1:c.409G>A, NM_001376543.1:c.337G>A, NM_001376539.1:c.409G>A, NM_001376541.1:c.337G>A, NM_001376544.1:c.337G>A, NM_001376545.1:c.337G>A, XM_047432054.1:c.409G>A, XM_047432058.1:c.409G>A, NM_001376546.1:c.421G>A, XM_047432053.1:c.421G>A, NM_001376548.1:c.409G>A, XM_047432056.1:c.406G>A, NM_001376547.1:c.409G>A, XM_047432055.1:c.409G>A, NM_001376549.1:c.409G>A, XM_047432057.1:c.421G>A, XM_047432060.1:c.406G>A, NM_001376536.1:c.337G>A, NM_001376552.1:c.337G>A, NM_001376550.1:c.409G>A, NM_001376551.1:c.337G>A, XM_047432059.1:c.409G>A, NM_001376555.1:c.337G>A, NM_001376554.1:c.337G>A, XR_007064415.1:n.627G>A, NM_001376556.1:c.337G>A, NM_001376557.1:c.409G>A, XM_047432061.1:c.409G>A, XP_005271327.1:p.Asp113Asn, NP_115667.2:p.Asp137Asn, XP_006711024.1:p.Asp141Asn, XP_006711034.1:p.Asp141Asn, XP_006711036.1:p.Asp141Asn, XP_016857994.1:p.Asp137Asn, XP_016857996.1:p.Asp136Asn, XP_016857995.1:p.Asp137Asn, XP_016857997.1:p.Asp136Asn, XP_016857999.1:p.Asp137Asn, NP_001337146.1:p.Asp141Asn, XP_016858004.1:p.Asp113Asn, XP_016858005.1:p.Asp113Asn, XP_016858013.1:p.Asp137Asn, XP_011540593.1:p.Asp136Asn, XP_016858017.1:p.Asp113Asn, XP_016858018.1:p.Asp141Asn, XP_011540594.1:p.Asp136Asn, NP_001337147.1:p.Asp113Asn, NP_001295132.1:p.Asp113Asn, NP_001363471.1:p.Asp113Asn, NP_001363466.1:p.Asp113Asn, NP_001363463.1:p.Asp137Asn, XP_047288007.1:p.Asp113Asn, XP_047288008.1:p.Asp136Asn, NP_001363464.1:p.Asp137Asn, NP_001363467.1:p.Asp141Asn, NP_001363469.1:p.Asp137Asn, NP_001363472.1:p.Asp113Asn, NP_001363468.1:p.Asp137Asn, NP_001363470.1:p.Asp113Asn, NP_001363473.1:p.Asp113Asn, NP_001363474.1:p.Asp113Asn, XP_047288010.1:p.Asp137Asn, XP_047288014.1:p.Asp137Asn, NP_001363475.1:p.Asp141Asn, XP_047288009.1:p.Asp141Asn, NP_001363477.1:p.Asp137Asn, XP_047288012.1:p.Asp136Asn, NP_001363476.1:p.Asp137Asn, XP_047288011.1:p.Asp137Asn, NP_001363478.1:p.Asp137Asn, XP_047288013.1:p.Asp141Asn, XP_047288016.1:p.Asp136Asn, NP_001363465.1:p.Asp113Asn, NP_001363481.1:p.Asp113Asn, NP_001363479.1:p.Asp137Asn, NP_001363480.1:p.Asp113Asn, XP_047288015.1:p.Asp137Asn, NP_001363484.1:p.Asp113Asn, NP_001363483.1:p.Asp113Asn, NP_001363485.1:p.Asp113Asn, NP_001363486.1:p.Asp137Asn, XP_047288017.1:p.Asp137Asn

              7.

              rs1484895916 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:66695461 (GRCh38)
                1:67161144 (GRCh37)
                Canonical SPDI:
                NC_000001.11:66695460:T:C
                Gene:
                SGIP1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                NC_000001.11:g.66695461T>C, NC_000001.10:g.67161144T>C, XM_005271270.5:c.1001T>C, XM_005271270.4:c.1001T>C, XM_005271270.3:c.1001T>C, XM_005271270.2:c.1001T>C, XM_005271270.1:c.1001T>C, NM_032291.4:c.1598T>C, NM_032291.3:c.1598T>C, NM_032291.2:c.1598T>C, XM_017002505.2:c.1664T>C, XM_017002505.1:c.1664T>C, XM_017002507.2:c.1661T>C, XM_017002507.1:c.1661T>C, XM_017002506.2:c.1664T>C, XM_017002506.1:c.1664T>C, XM_017002508.2:c.1661T>C, XM_017002508.1:c.1661T>C, XM_017002510.2:c.1640T>C, XM_017002510.1:c.1640T>C, NM_001350217.2:c.1610T>C, NM_001350217.1:c.1610T>C, XM_017002515.2:c.1568T>C, XM_017002515.1:c.1568T>C, XM_017002516.2:c.1568T>C, XM_017002516.1:c.1568T>C, XM_017002524.2:c.1139T>C, XM_017002524.1:c.1139T>C, XM_011542291.2:c.1094T>C, XM_011542291.1:c.1094T>C, XM_017002528.2:c.1067T>C, XM_017002528.1:c.1067T>C, NM_001350218.2:c.1025T>C, NM_001350218.1:c.1025T>C, NM_001376542.1:c.1526T>C, NM_001376537.1:c.1592T>C, NM_001376534.1:c.1598T>C, XM_047432051.1:c.1592T>C, XM_047432052.1:c.1571T>C, NM_001376535.1:c.1598T>C, NM_001376543.1:c.1526T>C, NM_001376541.1:c.1526T>C, XM_047432054.1:c.1073T>C, NM_001376546.1:c.1109T>C, XM_047432053.1:c.1085T>C, NM_001376548.1:c.1073T>C, XM_047432056.1:c.1070T>C, XM_047432055.1:c.1073T>C, NM_001376549.1:c.1073T>C, NM_001376552.1:c.1001T>C, NM_001376551.1:c.1001T>C, XP_005271327.1:p.Phe334Ser, NP_115667.2:p.Phe533Ser, XP_016857994.1:p.Phe555Ser, XP_016857996.1:p.Phe554Ser, XP_016857995.1:p.Phe555Ser, XP_016857997.1:p.Phe554Ser, XP_016857999.1:p.Phe547Ser, NP_001337146.1:p.Phe537Ser, XP_016858004.1:p.Phe523Ser, XP_016858005.1:p.Phe523Ser, XP_016858013.1:p.Phe380Ser, XP_011540593.1:p.Phe365Ser, XP_016858017.1:p.Phe356Ser, NP_001337147.1:p.Phe342Ser, NP_001363471.1:p.Phe509Ser, NP_001363466.1:p.Phe531Ser, NP_001363463.1:p.Phe533Ser, XP_047288007.1:p.Phe531Ser, XP_047288008.1:p.Phe524Ser, NP_001363464.1:p.Phe533Ser, NP_001363472.1:p.Phe509Ser, NP_001363470.1:p.Phe509Ser, XP_047288010.1:p.Phe358Ser, NP_001363475.1:p.Phe370Ser, XP_047288009.1:p.Phe362Ser, NP_001363477.1:p.Phe358Ser, XP_047288012.1:p.Phe357Ser, XP_047288011.1:p.Phe358Ser, NP_001363478.1:p.Phe358Ser, NP_001363481.1:p.Phe334Ser, NP_001363480.1:p.Phe334Ser

                8.

                rs1483050207 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:66689270 (GRCh38)
                  1:67154953 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:66689269:G:A
                  Gene:
                  SGIP1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000001.11:g.66689270G>A, NC_000001.10:g.67154953G>A, XM_005271270.5:c.841G>A, XM_005271270.4:c.841G>A, XM_005271270.3:c.841G>A, XM_005271270.2:c.841G>A, XM_005271270.1:c.841G>A, NM_032291.4:c.1438G>A, NM_032291.3:c.1438G>A, NM_032291.2:c.1438G>A, XM_006710961.3:c.1450G>A, XM_006710961.2:c.1450G>A, XM_006710961.1:c.1450G>A, XM_006710971.3:c.949G>A, XM_006710971.2:c.949G>A, XM_006710971.1:c.949G>A, XM_006710973.3:c.925G>A, XM_006710973.2:c.925G>A, XM_006710973.1:c.925G>A, XM_017002505.2:c.1438G>A, XM_017002505.1:c.1438G>A, XM_017002507.2:c.1435G>A, XM_017002507.1:c.1435G>A, XM_017002506.2:c.1438G>A, XM_017002506.1:c.1438G>A, XM_017002508.2:c.1435G>A, XM_017002508.1:c.1435G>A, XM_017002510.2:c.1414G>A, XM_017002510.1:c.1414G>A, NM_001350217.2:c.1450G>A, NM_001350217.1:c.1450G>A, XM_017002515.2:c.1342G>A, XM_017002515.1:c.1342G>A, XM_017002516.2:c.1342G>A, XM_017002516.1:c.1342G>A, XM_017002524.2:c.913G>A, XM_017002524.1:c.913G>A, XM_011542291.2:c.934G>A, XM_011542291.1:c.934G>A, XM_017002528.2:c.841G>A, XM_017002528.1:c.841G>A, XM_017002529.2:c.949G>A, XM_017002529.1:c.949G>A, XM_011542292.2:c.934G>A, XM_011542292.1:c.934G>A, NM_001350218.2:c.865G>A, NM_001350218.1:c.865G>A, NM_001308203.2:c.841G>A, NM_001308203.1:c.841G>A, NM_001376542.1:c.1366G>A, NM_001376537.1:c.1366G>A, NM_001376534.1:c.1438G>A, XM_047432051.1:c.1366G>A, XM_047432052.1:c.1411G>A, NM_001376535.1:c.1438G>A, NM_001376538.1:c.1450G>A, NM_001376540.1:c.1438G>A, NM_001376543.1:c.1366G>A, NM_001376539.1:c.1438G>A, NM_001376541.1:c.1366G>A, NM_001376544.1:c.1366G>A, NM_001376545.1:c.1366G>A, XM_047432054.1:c.913G>A, XM_047432058.1:c.913G>A, NM_001376546.1:c.949G>A, XM_047432053.1:c.925G>A, NM_001376548.1:c.913G>A, XM_047432056.1:c.910G>A, NM_001376547.1:c.913G>A, XM_047432055.1:c.913G>A, NM_001376549.1:c.913G>A, XM_047432057.1:c.925G>A, XM_047432060.1:c.910G>A, NM_001376536.1:c.841G>A, NM_001376552.1:c.841G>A, NM_001376550.1:c.913G>A, NM_001376551.1:c.841G>A, XM_047432059.1:c.913G>A, NM_001376555.1:c.841G>A, NM_001376554.1:c.841G>A, XR_007064415.1:n.1656G>A, NM_001376556.1:c.1366G>A, NM_001376557.1:c.913G>A, XM_047432061.1:c.913G>A, XP_005271327.1:p.Asp281Asn, NP_115667.2:p.Asp480Asn, XP_006711024.1:p.Asp484Asn, XP_006711034.1:p.Asp317Asn, XP_006711036.1:p.Asp309Asn, XP_016857994.1:p.Asp480Asn, XP_016857996.1:p.Asp479Asn, XP_016857995.1:p.Asp480Asn, XP_016857997.1:p.Asp479Asn, XP_016857999.1:p.Asp472Asn, NP_001337146.1:p.Asp484Asn, XP_016858004.1:p.Asp448Asn, XP_016858005.1:p.Asp448Asn, XP_016858013.1:p.Asp305Asn, XP_011540593.1:p.Asp312Asn, XP_016858017.1:p.Asp281Asn, XP_016858018.1:p.Asp317Asn, XP_011540594.1:p.Asp312Asn, NP_001337147.1:p.Asp289Asn, NP_001295132.1:p.Asp281Asn, NP_001363471.1:p.Asp456Asn, NP_001363466.1:p.Asp456Asn, NP_001363463.1:p.Asp480Asn, XP_047288007.1:p.Asp456Asn, XP_047288008.1:p.Asp471Asn, NP_001363464.1:p.Asp480Asn, NP_001363467.1:p.Asp484Asn, NP_001363469.1:p.Asp480Asn, NP_001363472.1:p.Asp456Asn, NP_001363468.1:p.Asp480Asn, NP_001363470.1:p.Asp456Asn, NP_001363473.1:p.Asp456Asn, NP_001363474.1:p.Asp456Asn, XP_047288010.1:p.Asp305Asn, XP_047288014.1:p.Asp305Asn, NP_001363475.1:p.Asp317Asn, XP_047288009.1:p.Asp309Asn, NP_001363477.1:p.Asp305Asn, XP_047288012.1:p.Asp304Asn, NP_001363476.1:p.Asp305Asn, XP_047288011.1:p.Asp305Asn, NP_001363478.1:p.Asp305Asn, XP_047288013.1:p.Asp309Asn, XP_047288016.1:p.Asp304Asn, NP_001363465.1:p.Asp281Asn, NP_001363481.1:p.Asp281Asn, NP_001363479.1:p.Asp305Asn, NP_001363480.1:p.Asp281Asn, XP_047288015.1:p.Asp305Asn, NP_001363484.1:p.Asp281Asn, NP_001363483.1:p.Asp281Asn, NP_001363485.1:p.Asp456Asn, NP_001363486.1:p.Asp305Asn, XP_047288017.1:p.Asp305Asn

                  9.

                  rs1482974068 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    1:66673283 (GRCh38)
                    1:67138966 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:66673282:A:C
                    Gene:
                    SGIP1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000001.11:g.66673283A>C, NC_000001.10:g.67138966A>C, XM_005271270.5:c.467A>C, XM_005271270.4:c.467A>C, XM_005271270.3:c.467A>C, XM_005271270.2:c.467A>C, XM_005271270.1:c.467A>C, NM_032291.4:c.563A>C, NM_032291.3:c.563A>C, NM_032291.2:c.563A>C, XM_006710961.3:c.575A>C, XM_006710961.2:c.575A>C, XM_006710961.1:c.575A>C, XM_006710971.3:c.575A>C, XM_006710971.2:c.575A>C, XM_006710971.1:c.575A>C, XM_006710973.3:c.551A>C, XM_006710973.2:c.551A>C, XM_006710973.1:c.551A>C, XM_017002505.2:c.563A>C, XM_017002505.1:c.563A>C, XM_017002507.2:c.560A>C, XM_017002507.1:c.560A>C, XM_017002506.2:c.563A>C, XM_017002506.1:c.563A>C, XM_017002508.2:c.560A>C, XM_017002508.1:c.560A>C, XM_017002510.2:c.539A>C, XM_017002510.1:c.539A>C, NM_001350217.2:c.575A>C, NM_001350217.1:c.575A>C, XM_017002515.2:c.467A>C, XM_017002515.1:c.467A>C, XM_017002516.2:c.467A>C, XM_017002516.1:c.467A>C, XM_017002524.2:c.539A>C, XM_017002524.1:c.539A>C, XM_011542291.2:c.560A>C, XM_011542291.1:c.560A>C, XM_017002528.2:c.467A>C, XM_017002528.1:c.467A>C, XM_017002529.2:c.575A>C, XM_017002529.1:c.575A>C, XM_011542292.2:c.560A>C, XM_011542292.1:c.560A>C, NM_001350218.2:c.491A>C, NM_001350218.1:c.491A>C, NM_001308203.2:c.467A>C, NM_001308203.1:c.467A>C, NM_001376542.1:c.491A>C, NM_001376537.1:c.491A>C, NM_001376534.1:c.563A>C, XM_047432051.1:c.491A>C, XM_047432052.1:c.536A>C, NM_001376535.1:c.563A>C, NM_001376538.1:c.575A>C, NM_001376540.1:c.563A>C, NM_001376543.1:c.491A>C, NM_001376539.1:c.563A>C, NM_001376541.1:c.491A>C, NM_001376544.1:c.491A>C, NM_001376545.1:c.491A>C, XM_047432054.1:c.539A>C, XM_047432058.1:c.539A>C, NM_001376546.1:c.575A>C, XM_047432053.1:c.551A>C, NM_001376548.1:c.539A>C, XM_047432056.1:c.536A>C, NM_001376547.1:c.539A>C, XM_047432055.1:c.539A>C, NM_001376549.1:c.539A>C, XM_047432057.1:c.551A>C, XM_047432060.1:c.536A>C, NM_001376536.1:c.467A>C, NM_001376552.1:c.467A>C, NM_001376550.1:c.539A>C, NM_001376551.1:c.467A>C, XM_047432059.1:c.539A>C, NM_001376555.1:c.467A>C, NM_001376554.1:c.467A>C, XR_007064415.1:n.781A>C, NM_001376556.1:c.491A>C, NM_001376557.1:c.539A>C, XM_047432061.1:c.539A>C, XP_005271327.1:p.Lys156Thr, NP_115667.2:p.Lys188Thr, XP_006711024.1:p.Lys192Thr, XP_006711034.1:p.Lys192Thr, XP_006711036.1:p.Lys184Thr, XP_016857994.1:p.Lys188Thr, XP_016857996.1:p.Lys187Thr, XP_016857995.1:p.Lys188Thr, XP_016857997.1:p.Lys187Thr, XP_016857999.1:p.Lys180Thr, NP_001337146.1:p.Lys192Thr, XP_016858004.1:p.Lys156Thr, XP_016858005.1:p.Lys156Thr, XP_016858013.1:p.Lys180Thr, XP_011540593.1:p.Lys187Thr, XP_016858017.1:p.Lys156Thr, XP_016858018.1:p.Lys192Thr, XP_011540594.1:p.Lys187Thr, NP_001337147.1:p.Lys164Thr, NP_001295132.1:p.Lys156Thr, NP_001363471.1:p.Lys164Thr, NP_001363466.1:p.Lys164Thr, NP_001363463.1:p.Lys188Thr, XP_047288007.1:p.Lys164Thr, XP_047288008.1:p.Lys179Thr, NP_001363464.1:p.Lys188Thr, NP_001363467.1:p.Lys192Thr, NP_001363469.1:p.Lys188Thr, NP_001363472.1:p.Lys164Thr, NP_001363468.1:p.Lys188Thr, NP_001363470.1:p.Lys164Thr, NP_001363473.1:p.Lys164Thr, NP_001363474.1:p.Lys164Thr, XP_047288010.1:p.Lys180Thr, XP_047288014.1:p.Lys180Thr, NP_001363475.1:p.Lys192Thr, XP_047288009.1:p.Lys184Thr, NP_001363477.1:p.Lys180Thr, XP_047288012.1:p.Lys179Thr, NP_001363476.1:p.Lys180Thr, XP_047288011.1:p.Lys180Thr, NP_001363478.1:p.Lys180Thr, XP_047288013.1:p.Lys184Thr, XP_047288016.1:p.Lys179Thr, NP_001363465.1:p.Lys156Thr, NP_001363481.1:p.Lys156Thr, NP_001363479.1:p.Lys180Thr, NP_001363480.1:p.Lys156Thr, XP_047288015.1:p.Lys180Thr, NP_001363484.1:p.Lys156Thr, NP_001363483.1:p.Lys156Thr, NP_001363485.1:p.Lys164Thr, NP_001363486.1:p.Lys180Thr, XP_047288017.1:p.Lys180Thr

                    10.

                    rs1482001229 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      1:66719311 (GRCh38)
                      1:67184994 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:66719310:A:C
                      Gene:
                      SGIP1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.66719311A>C, NC_000001.10:g.67184994A>C, XM_005271270.5:c.1051A>C, XM_005271270.4:c.1051A>C, XM_005271270.3:c.1051A>C, XM_005271270.2:c.1051A>C, XM_005271270.1:c.1051A>C, NM_032291.4:c.1648A>C, NM_032291.3:c.1648A>C, NM_032291.2:c.1648A>C, XM_006710961.3:c.1666A>C, XM_006710961.2:c.1666A>C, XM_006710961.1:c.1666A>C, XM_006710971.3:c.1165A>C, XM_006710971.2:c.1165A>C, XM_006710971.1:c.1165A>C, XM_006710973.3:c.1141A>C, XM_006710973.2:c.1141A>C, XM_006710973.1:c.1141A>C, XM_017002505.2:c.1714A>C, XM_017002505.1:c.1714A>C, XM_017002507.2:c.1711A>C, XM_017002507.1:c.1711A>C, XM_017002506.2:c.1714A>C, XM_017002506.1:c.1714A>C, XM_017002508.2:c.1711A>C, XM_017002508.1:c.1711A>C, XM_017002510.2:c.1690A>C, XM_017002510.1:c.1690A>C, NM_001350217.2:c.1660A>C, NM_001350217.1:c.1660A>C, XM_017002515.2:c.1618A>C, XM_017002515.1:c.1618A>C, XM_017002516.2:c.1618A>C, XM_017002516.1:c.1618A>C, XM_017002524.2:c.1189A>C, XM_017002524.1:c.1189A>C, XM_011542291.2:c.1144A>C, XM_011542291.1:c.1144A>C, XM_017002528.2:c.1117A>C, XM_017002528.1:c.1117A>C, XM_017002529.2:c.1099A>C, XM_017002529.1:c.1099A>C, XM_011542292.2:c.1084A>C, XM_011542292.1:c.1084A>C, NM_001350218.2:c.1075A>C, NM_001350218.1:c.1075A>C, NM_001308203.2:c.1057A>C, NM_001308203.1:c.1057A>C, NM_001376542.1:c.1576A>C, NM_001376537.1:c.1642A>C, NM_001376534.1:c.1648A>C, XM_047432051.1:c.1642A>C, XM_047432052.1:c.1621A>C, NM_001376535.1:c.1648A>C, NM_001376538.1:c.1600A>C, NM_001376540.1:c.1588A>C, NM_001376543.1:c.1576A>C, NM_001376539.1:c.1588A>C, NM_001376541.1:c.1576A>C, NM_001376544.1:c.1516A>C, NM_001376545.1:c.1516A>C, XM_047432054.1:c.1123A>C, XM_047432058.1:c.1063A>C, NM_001376546.1:c.1159A>C, XM_047432053.1:c.1135A>C, NM_001376548.1:c.1123A>C, XM_047432056.1:c.1120A>C, NM_001376547.1:c.1129A>C, XM_047432055.1:c.1123A>C, NM_001376549.1:c.1123A>C, XM_047432057.1:c.1075A>C, XM_047432060.1:c.1060A>C, NM_001376536.1:c.1057A>C, NM_001376552.1:c.1051A>C, NM_001376550.1:c.1063A>C, NM_001376551.1:c.1051A>C, XM_047432059.1:c.1063A>C, NM_001376555.1:c.991A>C, NM_001376554.1:c.991A>C, XR_007064415.1:n.1745A>C, XP_005271327.1:p.Ser351Arg, NP_115667.2:p.Ser550Arg, XP_006711024.1:p.Ser556Arg, XP_006711034.1:p.Ser389Arg, XP_006711036.1:p.Ser381Arg, XP_016857994.1:p.Ser572Arg, XP_016857996.1:p.Ser571Arg, XP_016857995.1:p.Ser572Arg, XP_016857997.1:p.Ser571Arg, XP_016857999.1:p.Ser564Arg, NP_001337146.1:p.Ser554Arg, XP_016858004.1:p.Ser540Arg, XP_016858005.1:p.Ser540Arg, XP_016858013.1:p.Ser397Arg, XP_011540593.1:p.Ser382Arg, XP_016858017.1:p.Ser373Arg, XP_016858018.1:p.Ser367Arg, XP_011540594.1:p.Ser362Arg, NP_001337147.1:p.Ser359Arg, NP_001295132.1:p.Ser353Arg, NP_001363471.1:p.Ser526Arg, NP_001363466.1:p.Ser548Arg, NP_001363463.1:p.Ser550Arg, XP_047288007.1:p.Ser548Arg, XP_047288008.1:p.Ser541Arg, NP_001363464.1:p.Ser550Arg, NP_001363467.1:p.Ser534Arg, NP_001363469.1:p.Ser530Arg, NP_001363472.1:p.Ser526Arg, NP_001363468.1:p.Ser530Arg, NP_001363470.1:p.Ser526Arg, NP_001363473.1:p.Ser506Arg, NP_001363474.1:p.Ser506Arg, XP_047288010.1:p.Ser375Arg, XP_047288014.1:p.Ser355Arg, NP_001363475.1:p.Ser387Arg, XP_047288009.1:p.Ser379Arg, NP_001363477.1:p.Ser375Arg, XP_047288012.1:p.Ser374Arg, NP_001363476.1:p.Ser377Arg, XP_047288011.1:p.Ser375Arg, NP_001363478.1:p.Ser375Arg, XP_047288013.1:p.Ser359Arg, XP_047288016.1:p.Ser354Arg, NP_001363465.1:p.Ser353Arg, NP_001363481.1:p.Ser351Arg, NP_001363479.1:p.Ser355Arg, NP_001363480.1:p.Ser351Arg, XP_047288015.1:p.Ser355Arg, NP_001363484.1:p.Ser331Arg, NP_001363483.1:p.Ser331Arg

                      11.

                      rs1481776260 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:66682255 (GRCh38)
                        1:67147938 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:66682254:A:G
                        Gene:
                        SGIP1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000047/1 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.66682255A>G, NC_000001.10:g.67147938A>G, NM_032291.4:c.1201A>G, NM_032291.3:c.1201A>G, NM_032291.2:c.1201A>G, XM_006710961.3:c.1213A>G, XM_006710961.2:c.1213A>G, XM_006710961.1:c.1213A>G, XM_017002505.2:c.1201A>G, XM_017002505.1:c.1201A>G, XM_017002507.2:c.1198A>G, XM_017002507.1:c.1198A>G, XM_017002506.2:c.1201A>G, XM_017002506.1:c.1201A>G, XM_017002508.2:c.1198A>G, XM_017002508.1:c.1198A>G, XM_017002510.2:c.1177A>G, XM_017002510.1:c.1177A>G, NM_001350217.2:c.1213A>G, NM_001350217.1:c.1213A>G, XM_017002515.2:c.1105A>G, XM_017002515.1:c.1105A>G, XM_017002516.2:c.1105A>G, XM_017002516.1:c.1105A>G, NM_001376542.1:c.1129A>G, NM_001376537.1:c.1129A>G, NM_001376534.1:c.1201A>G, XM_047432051.1:c.1129A>G, XM_047432052.1:c.1174A>G, NM_001376535.1:c.1201A>G, NM_001376538.1:c.1213A>G, NM_001376540.1:c.1201A>G, NM_001376543.1:c.1129A>G, NM_001376539.1:c.1201A>G, NM_001376541.1:c.1129A>G, NM_001376544.1:c.1129A>G, NM_001376545.1:c.1129A>G, XR_007064415.1:n.1419A>G, NM_001376556.1:c.1129A>G, NP_115667.2:p.Lys401Glu, XP_006711024.1:p.Lys405Glu, XP_016857994.1:p.Lys401Glu, XP_016857996.1:p.Lys400Glu, XP_016857995.1:p.Lys401Glu, XP_016857997.1:p.Lys400Glu, XP_016857999.1:p.Lys393Glu, NP_001337146.1:p.Lys405Glu, XP_016858004.1:p.Lys369Glu, XP_016858005.1:p.Lys369Glu, NP_001363471.1:p.Lys377Glu, NP_001363466.1:p.Lys377Glu, NP_001363463.1:p.Lys401Glu, XP_047288007.1:p.Lys377Glu, XP_047288008.1:p.Lys392Glu, NP_001363464.1:p.Lys401Glu, NP_001363467.1:p.Lys405Glu, NP_001363469.1:p.Lys401Glu, NP_001363472.1:p.Lys377Glu, NP_001363468.1:p.Lys401Glu, NP_001363470.1:p.Lys377Glu, NP_001363473.1:p.Lys377Glu, NP_001363474.1:p.Lys377Glu, NP_001363485.1:p.Lys377Glu

                        12.

                        rs1481483980 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:66719323 (GRCh38)
                          1:67185006 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:66719322:A:G
                          Gene:
                          SGIP1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0./0 (GnomAD)
                          HGVS:
                          NC_000001.11:g.66719323A>G, NC_000001.10:g.67185006A>G, XM_005271270.5:c.1063A>G, XM_005271270.4:c.1063A>G, XM_005271270.3:c.1063A>G, XM_005271270.2:c.1063A>G, XM_005271270.1:c.1063A>G, NM_032291.4:c.1660A>G, NM_032291.3:c.1660A>G, NM_032291.2:c.1660A>G, XM_006710961.3:c.1678A>G, XM_006710961.2:c.1678A>G, XM_006710961.1:c.1678A>G, XM_006710971.3:c.1177A>G, XM_006710971.2:c.1177A>G, XM_006710971.1:c.1177A>G, XM_006710973.3:c.1153A>G, XM_006710973.2:c.1153A>G, XM_006710973.1:c.1153A>G, XM_017002505.2:c.1726A>G, XM_017002505.1:c.1726A>G, XM_017002507.2:c.1723A>G, XM_017002507.1:c.1723A>G, XM_017002506.2:c.1726A>G, XM_017002506.1:c.1726A>G, XM_017002508.2:c.1723A>G, XM_017002508.1:c.1723A>G, XM_017002510.2:c.1702A>G, XM_017002510.1:c.1702A>G, NM_001350217.2:c.1672A>G, NM_001350217.1:c.1672A>G, XM_017002515.2:c.1630A>G, XM_017002515.1:c.1630A>G, XM_017002516.2:c.1630A>G, XM_017002516.1:c.1630A>G, XM_017002524.2:c.1201A>G, XM_017002524.1:c.1201A>G, XM_011542291.2:c.1156A>G, XM_011542291.1:c.1156A>G, XM_017002528.2:c.1129A>G, XM_017002528.1:c.1129A>G, XM_017002529.2:c.1111A>G, XM_017002529.1:c.1111A>G, XM_011542292.2:c.1096A>G, XM_011542292.1:c.1096A>G, NM_001350218.2:c.1087A>G, NM_001350218.1:c.1087A>G, NM_001308203.2:c.1069A>G, NM_001308203.1:c.1069A>G, NM_001376542.1:c.1588A>G, NM_001376537.1:c.1654A>G, NM_001376534.1:c.1660A>G, XM_047432051.1:c.1654A>G, XM_047432052.1:c.1633A>G, NM_001376535.1:c.1660A>G, NM_001376538.1:c.1612A>G, NM_001376540.1:c.1600A>G, NM_001376543.1:c.1588A>G, NM_001376539.1:c.1600A>G, NM_001376541.1:c.1588A>G, NM_001376544.1:c.1528A>G, NM_001376545.1:c.1528A>G, XM_047432054.1:c.1135A>G, XM_047432058.1:c.1075A>G, NM_001376546.1:c.1171A>G, XM_047432053.1:c.1147A>G, NM_001376548.1:c.1135A>G, XM_047432056.1:c.1132A>G, NM_001376547.1:c.1141A>G, XM_047432055.1:c.1135A>G, NM_001376549.1:c.1135A>G, XM_047432057.1:c.1087A>G, XM_047432060.1:c.1072A>G, NM_001376536.1:c.1069A>G, NM_001376552.1:c.1063A>G, NM_001376550.1:c.1075A>G, NM_001376551.1:c.1063A>G, XM_047432059.1:c.1075A>G, NM_001376555.1:c.1003A>G, NM_001376554.1:c.1003A>G, XR_007064415.1:n.1757A>G, XP_005271327.1:p.Met355Val, NP_115667.2:p.Met554Val, XP_006711024.1:p.Met560Val, XP_006711034.1:p.Met393Val, XP_006711036.1:p.Met385Val, XP_016857994.1:p.Met576Val, XP_016857996.1:p.Met575Val, XP_016857995.1:p.Met576Val, XP_016857997.1:p.Met575Val, XP_016857999.1:p.Met568Val, NP_001337146.1:p.Met558Val, XP_016858004.1:p.Met544Val, XP_016858005.1:p.Met544Val, XP_016858013.1:p.Met401Val, XP_011540593.1:p.Met386Val, XP_016858017.1:p.Met377Val, XP_016858018.1:p.Met371Val, XP_011540594.1:p.Met366Val, NP_001337147.1:p.Met363Val, NP_001295132.1:p.Met357Val, NP_001363471.1:p.Met530Val, NP_001363466.1:p.Met552Val, NP_001363463.1:p.Met554Val, XP_047288007.1:p.Met552Val, XP_047288008.1:p.Met545Val, NP_001363464.1:p.Met554Val, NP_001363467.1:p.Met538Val, NP_001363469.1:p.Met534Val, NP_001363472.1:p.Met530Val, NP_001363468.1:p.Met534Val, NP_001363470.1:p.Met530Val, NP_001363473.1:p.Met510Val, NP_001363474.1:p.Met510Val, XP_047288010.1:p.Met379Val, XP_047288014.1:p.Met359Val, NP_001363475.1:p.Met391Val, XP_047288009.1:p.Met383Val, NP_001363477.1:p.Met379Val, XP_047288012.1:p.Met378Val, NP_001363476.1:p.Met381Val, XP_047288011.1:p.Met379Val, NP_001363478.1:p.Met379Val, XP_047288013.1:p.Met363Val, XP_047288016.1:p.Met358Val, NP_001363465.1:p.Met357Val, NP_001363481.1:p.Met355Val, NP_001363479.1:p.Met359Val, NP_001363480.1:p.Met355Val, XP_047288015.1:p.Met359Val, NP_001363484.1:p.Met335Val, NP_001363483.1:p.Met335Val

                          13.

                          rs1480111170 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:66739533 (GRCh38)
                            1:67205216 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:66739532:G:C
                            Gene:
                            SGIP1 (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=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000001.11:g.66739533G>C, NC_000001.10:g.67205216G>C, XM_005271270.5:c.1633G>C, XM_005271270.4:c.1633G>C, XM_005271270.3:c.1633G>C, XM_005271270.2:c.1633G>C, XM_005271270.1:c.1633G>C, NM_032291.4:c.2230G>C, NM_032291.3:c.2230G>C, NM_032291.2:c.2230G>C, XM_006710961.3:c.2248G>C, XM_006710961.2:c.2248G>C, XM_006710961.1:c.2248G>C, XM_006710971.3:c.1747G>C, XM_006710971.2:c.1747G>C, XM_006710971.1:c.1747G>C, XM_006710973.3:c.1723G>C, XM_006710973.2:c.1723G>C, XM_006710973.1:c.1723G>C, XM_017002505.2:c.2296G>C, XM_017002505.1:c.2296G>C, XM_017002507.2:c.2293G>C, XM_017002507.1:c.2293G>C, XM_017002506.2:c.2296G>C, XM_017002506.1:c.2296G>C, XM_017002508.2:c.2293G>C, XM_017002508.1:c.2293G>C, XM_017002510.2:c.2272G>C, XM_017002510.1:c.2272G>C, NM_001350217.2:c.2242G>C, NM_001350217.1:c.2242G>C, XM_017002515.2:c.2200G>C, XM_017002515.1:c.2200G>C, XM_017002516.2:c.2200G>C, XM_017002516.1:c.2200G>C, XM_017002524.2:c.1771G>C, XM_017002524.1:c.1771G>C, XM_011542291.2:c.1726G>C, XM_011542291.1:c.1726G>C, XM_017002528.2:c.1699G>C, XM_017002528.1:c.1699G>C, XM_017002529.2:c.1681G>C, XM_017002529.1:c.1681G>C, XM_011542292.2:c.1666G>C, XM_011542292.1:c.1666G>C, NM_001350218.2:c.1657G>C, NM_001350218.1:c.1657G>C, NM_001308203.2:c.1639G>C, NM_001308203.1:c.1639G>C, NM_001376542.1:c.2158G>C, NM_001376537.1:c.2224G>C, NM_001376534.1:c.2230G>C, XM_047432051.1:c.2224G>C, XM_047432052.1:c.2203G>C, NM_001376535.1:c.2230G>C, NM_001376538.1:c.2182G>C, NM_001376540.1:c.2170G>C, NM_001376543.1:c.2158G>C, NM_001376539.1:c.2170G>C, NM_001376541.1:c.2158G>C, NM_001376544.1:c.2098G>C, NM_001376545.1:c.2098G>C, XM_047432054.1:c.1705G>C, XM_047432058.1:c.1645G>C, NM_001376546.1:c.1741G>C, XM_047432053.1:c.1717G>C, NM_001376548.1:c.1705G>C, XM_047432056.1:c.1702G>C, NM_001376547.1:c.1711G>C, XM_047432055.1:c.1705G>C, NM_001376549.1:c.1705G>C, XM_047432057.1:c.1657G>C, XM_047432060.1:c.1642G>C, NM_001376536.1:c.1639G>C, NM_001376552.1:c.1633G>C, NM_001376550.1:c.1645G>C, NM_001376551.1:c.1633G>C, XM_047432059.1:c.1645G>C, NM_001376555.1:c.1573G>C, NM_001376554.1:c.1573G>C, XP_005271327.1:p.Val545Leu, NP_115667.2:p.Val744Leu, XP_006711024.1:p.Val750Leu, XP_006711034.1:p.Val583Leu, XP_006711036.1:p.Val575Leu, XP_016857994.1:p.Val766Leu, XP_016857996.1:p.Val765Leu, XP_016857995.1:p.Val766Leu, XP_016857997.1:p.Val765Leu, XP_016857999.1:p.Val758Leu, NP_001337146.1:p.Val748Leu, XP_016858004.1:p.Val734Leu, XP_016858005.1:p.Val734Leu, XP_016858013.1:p.Val591Leu, XP_011540593.1:p.Val576Leu, XP_016858017.1:p.Val567Leu, XP_016858018.1:p.Val561Leu, XP_011540594.1:p.Val556Leu, NP_001337147.1:p.Val553Leu, NP_001295132.1:p.Val547Leu, NP_001363471.1:p.Val720Leu, NP_001363466.1:p.Val742Leu, NP_001363463.1:p.Val744Leu, XP_047288007.1:p.Val742Leu, XP_047288008.1:p.Val735Leu, NP_001363464.1:p.Val744Leu, NP_001363467.1:p.Val728Leu, NP_001363469.1:p.Val724Leu, NP_001363472.1:p.Val720Leu, NP_001363468.1:p.Val724Leu, NP_001363470.1:p.Val720Leu, NP_001363473.1:p.Val700Leu, NP_001363474.1:p.Val700Leu, XP_047288010.1:p.Val569Leu, XP_047288014.1:p.Val549Leu, NP_001363475.1:p.Val581Leu, XP_047288009.1:p.Val573Leu, NP_001363477.1:p.Val569Leu, XP_047288012.1:p.Val568Leu, NP_001363476.1:p.Val571Leu, XP_047288011.1:p.Val569Leu, NP_001363478.1:p.Val569Leu, XP_047288013.1:p.Val553Leu, XP_047288016.1:p.Val548Leu, NP_001363465.1:p.Val547Leu, NP_001363481.1:p.Val545Leu, NP_001363479.1:p.Val549Leu, NP_001363480.1:p.Val545Leu, XP_047288015.1:p.Val549Leu, NP_001363484.1:p.Val525Leu, NP_001363483.1:p.Val525Leu

                            14.

                            rs1480048510 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:66741426 (GRCh38)
                              1:67207109 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:66741425:G:T
                              Gene:
                              SGIP1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.66741426G>T, NC_000001.10:g.67207109G>T, XM_005271270.5:c.1857G>T, XM_005271270.4:c.1857G>T, XM_005271270.3:c.1857G>T, XM_005271270.2:c.1857G>T, XM_005271270.1:c.1857G>T, NM_032291.4:c.2454G>T, NM_032291.3:c.2454G>T, NM_032291.2:c.2454G>T, XM_006710961.3:c.2472G>T, XM_006710961.2:c.2472G>T, XM_006710961.1:c.2472G>T, XM_006710971.3:c.1971G>T, XM_006710971.2:c.1971G>T, XM_006710971.1:c.1971G>T, XM_006710973.3:c.1947G>T, XM_006710973.2:c.1947G>T, XM_006710973.1:c.1947G>T, XM_017002505.2:c.2520G>T, XM_017002505.1:c.2520G>T, XM_017002507.2:c.2517G>T, XM_017002507.1:c.2517G>T, XM_017002506.2:c.2520G>T, XM_017002506.1:c.2520G>T, XM_017002508.2:c.2517G>T, XM_017002508.1:c.2517G>T, XM_017002510.2:c.2496G>T, XM_017002510.1:c.2496G>T, NM_001350217.2:c.2466G>T, NM_001350217.1:c.2466G>T, XM_017002515.2:c.2424G>T, XM_017002515.1:c.2424G>T, XM_017002516.2:c.2424G>T, XM_017002516.1:c.2424G>T, XM_017002524.2:c.1995G>T, XM_017002524.1:c.1995G>T, XM_011542291.2:c.1950G>T, XM_011542291.1:c.1950G>T, XM_017002528.2:c.1923G>T, XM_017002528.1:c.1923G>T, XM_017002529.2:c.1905G>T, XM_017002529.1:c.1905G>T, XM_011542292.2:c.1890G>T, XM_011542292.1:c.1890G>T, NM_001350218.2:c.1881G>T, NM_001350218.1:c.1881G>T, NM_001308203.2:c.1863G>T, NM_001308203.1:c.1863G>T, NM_001376542.1:c.2382G>T, NM_001376537.1:c.2448G>T, NM_001376534.1:c.2454G>T, XM_047432051.1:c.2448G>T, XM_047432052.1:c.2427G>T, NM_001376535.1:c.2454G>T, NM_001376538.1:c.2406G>T, NM_001376540.1:c.2394G>T, NM_001376543.1:c.2382G>T, NM_001376539.1:c.2394G>T, NM_001376541.1:c.2382G>T, NM_001376544.1:c.2322G>T, NM_001376545.1:c.2322G>T, XM_047432054.1:c.1929G>T, XM_047432058.1:c.1869G>T, NM_001376546.1:c.1965G>T, XM_047432053.1:c.1941G>T, NM_001376548.1:c.1929G>T, XM_047432056.1:c.1926G>T, NM_001376547.1:c.1935G>T, XM_047432055.1:c.1929G>T, NM_001376549.1:c.1929G>T, XM_047432057.1:c.1881G>T, XM_047432060.1:c.1866G>T, NM_001376536.1:c.1863G>T, NM_001376552.1:c.1857G>T, NM_001376550.1:c.1869G>T, NM_001376551.1:c.1857G>T, XM_047432059.1:c.1869G>T, NM_001376555.1:c.1797G>T, NM_001376554.1:c.1797G>T, XP_005271327.1:p.Arg619Ser, NP_115667.2:p.Arg818Ser, XP_006711024.1:p.Arg824Ser, XP_006711034.1:p.Arg657Ser, XP_006711036.1:p.Arg649Ser, XP_016857994.1:p.Arg840Ser, XP_016857996.1:p.Arg839Ser, XP_016857995.1:p.Arg840Ser, XP_016857997.1:p.Arg839Ser, XP_016857999.1:p.Arg832Ser, NP_001337146.1:p.Arg822Ser, XP_016858004.1:p.Arg808Ser, XP_016858005.1:p.Arg808Ser, XP_016858013.1:p.Arg665Ser, XP_011540593.1:p.Arg650Ser, XP_016858017.1:p.Arg641Ser, XP_016858018.1:p.Arg635Ser, XP_011540594.1:p.Arg630Ser, NP_001337147.1:p.Arg627Ser, NP_001295132.1:p.Arg621Ser, NP_001363471.1:p.Arg794Ser, NP_001363466.1:p.Arg816Ser, NP_001363463.1:p.Arg818Ser, XP_047288007.1:p.Arg816Ser, XP_047288008.1:p.Arg809Ser, NP_001363464.1:p.Arg818Ser, NP_001363467.1:p.Arg802Ser, NP_001363469.1:p.Arg798Ser, NP_001363472.1:p.Arg794Ser, NP_001363468.1:p.Arg798Ser, NP_001363470.1:p.Arg794Ser, NP_001363473.1:p.Arg774Ser, NP_001363474.1:p.Arg774Ser, XP_047288010.1:p.Arg643Ser, XP_047288014.1:p.Arg623Ser, NP_001363475.1:p.Arg655Ser, XP_047288009.1:p.Arg647Ser, NP_001363477.1:p.Arg643Ser, XP_047288012.1:p.Arg642Ser, NP_001363476.1:p.Arg645Ser, XP_047288011.1:p.Arg643Ser, NP_001363478.1:p.Arg643Ser, XP_047288013.1:p.Arg627Ser, XP_047288016.1:p.Arg622Ser, NP_001363465.1:p.Arg621Ser, NP_001363481.1:p.Arg619Ser, NP_001363479.1:p.Arg623Ser, NP_001363480.1:p.Arg619Ser, XP_047288015.1:p.Arg623Ser, NP_001363484.1:p.Arg599Ser, NP_001363483.1:p.Arg599Ser

                              15.

                              rs1476993504 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                1:66682094 (GRCh38)
                                1:67147777 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:66682093:C:G
                                Gene:
                                SGIP1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.66682094C>G, NC_000001.10:g.67147777C>G, NM_032291.4:c.1040C>G, NM_032291.3:c.1040C>G, NM_032291.2:c.1040C>G, XM_006710961.3:c.1052C>G, XM_006710961.2:c.1052C>G, XM_006710961.1:c.1052C>G, XM_017002505.2:c.1040C>G, XM_017002505.1:c.1040C>G, XM_017002507.2:c.1037C>G, XM_017002507.1:c.1037C>G, XM_017002506.2:c.1040C>G, XM_017002506.1:c.1040C>G, XM_017002508.2:c.1037C>G, XM_017002508.1:c.1037C>G, XM_017002510.2:c.1016C>G, XM_017002510.1:c.1016C>G, NM_001350217.2:c.1052C>G, NM_001350217.1:c.1052C>G, XM_017002515.2:c.944C>G, XM_017002515.1:c.944C>G, XM_017002516.2:c.944C>G, XM_017002516.1:c.944C>G, NM_001376542.1:c.968C>G, NM_001376537.1:c.968C>G, NM_001376534.1:c.1040C>G, XM_047432051.1:c.968C>G, XM_047432052.1:c.1013C>G, NM_001376535.1:c.1040C>G, NM_001376538.1:c.1052C>G, NM_001376540.1:c.1040C>G, NM_001376543.1:c.968C>G, NM_001376539.1:c.1040C>G, NM_001376541.1:c.968C>G, NM_001376544.1:c.968C>G, NM_001376545.1:c.968C>G, XR_007064415.1:n.1258C>G, NM_001376556.1:c.968C>G, NP_115667.2:p.Pro347Arg, XP_006711024.1:p.Pro351Arg, XP_016857994.1:p.Pro347Arg, XP_016857996.1:p.Pro346Arg, XP_016857995.1:p.Pro347Arg, XP_016857997.1:p.Pro346Arg, XP_016857999.1:p.Pro339Arg, NP_001337146.1:p.Pro351Arg, XP_016858004.1:p.Pro315Arg, XP_016858005.1:p.Pro315Arg, NP_001363471.1:p.Pro323Arg, NP_001363466.1:p.Pro323Arg, NP_001363463.1:p.Pro347Arg, XP_047288007.1:p.Pro323Arg, XP_047288008.1:p.Pro338Arg, NP_001363464.1:p.Pro347Arg, NP_001363467.1:p.Pro351Arg, NP_001363469.1:p.Pro347Arg, NP_001363472.1:p.Pro323Arg, NP_001363468.1:p.Pro347Arg, NP_001363470.1:p.Pro323Arg, NP_001363473.1:p.Pro323Arg, NP_001363474.1:p.Pro323Arg, NP_001363485.1:p.Pro323Arg

                                16.

                                rs1474108837 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  1:66639822 (GRCh38)
                                  1:67105505 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:66639821:T:G
                                  Gene:
                                  SGIP1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.66639822T>G, NC_000001.10:g.67105505T>G, XM_005271270.5:c.145T>G, XM_005271270.4:c.145T>G, XM_005271270.3:c.145T>G, XM_005271270.2:c.145T>G, XM_005271270.1:c.145T>G, NM_032291.4:c.217T>G, NM_032291.3:c.217T>G, NM_032291.2:c.217T>G, XM_006710961.3:c.229T>G, XM_006710961.2:c.229T>G, XM_006710961.1:c.229T>G, XM_006710971.3:c.229T>G, XM_006710971.2:c.229T>G, XM_006710971.1:c.229T>G, XM_006710973.3:c.229T>G, XM_006710973.2:c.229T>G, XM_006710973.1:c.229T>G, XM_017002505.2:c.217T>G, XM_017002505.1:c.217T>G, XM_017002507.2:c.214T>G, XM_017002507.1:c.214T>G, XM_017002506.2:c.217T>G, XM_017002506.1:c.217T>G, XM_017002508.2:c.214T>G, XM_017002508.1:c.214T>G, XM_017002510.2:c.217T>G, XM_017002510.1:c.217T>G, NM_001350217.2:c.229T>G, NM_001350217.1:c.229T>G, XM_017002515.2:c.145T>G, XM_017002515.1:c.145T>G, XM_017002516.2:c.145T>G, XM_017002516.1:c.145T>G, XM_017002524.2:c.217T>G, XM_017002524.1:c.217T>G, XM_011542291.2:c.214T>G, XM_011542291.1:c.214T>G, XM_017002528.2:c.145T>G, XM_017002528.1:c.145T>G, XM_017002529.2:c.229T>G, XM_017002529.1:c.229T>G, XM_011542292.2:c.214T>G, XM_011542292.1:c.214T>G, NM_001350218.2:c.145T>G, NM_001350218.1:c.145T>G, NM_001308203.2:c.145T>G, NM_001308203.1:c.145T>G, NM_001376542.1:c.145T>G, NM_001376537.1:c.145T>G, NM_001376534.1:c.217T>G, XM_047432051.1:c.145T>G, XM_047432052.1:c.214T>G, NM_001376535.1:c.217T>G, NM_001376538.1:c.229T>G, NM_001376540.1:c.217T>G, NM_001376543.1:c.145T>G, NM_001376539.1:c.217T>G, NM_001376541.1:c.145T>G, NM_001376544.1:c.145T>G, NM_001376545.1:c.145T>G, XM_047432054.1:c.217T>G, XM_047432058.1:c.217T>G, NM_001376546.1:c.229T>G, XM_047432053.1:c.229T>G, NM_001376548.1:c.217T>G, XM_047432056.1:c.214T>G, NM_001376547.1:c.217T>G, XM_047432055.1:c.217T>G, NM_001376549.1:c.217T>G, XM_047432057.1:c.229T>G, XM_047432060.1:c.214T>G, NM_001376536.1:c.145T>G, NM_001376552.1:c.145T>G, NM_001376550.1:c.217T>G, NM_001376551.1:c.145T>G, XM_047432059.1:c.217T>G, NM_001376555.1:c.145T>G, NM_001376554.1:c.145T>G, XR_007064415.1:n.435T>G, NM_001376556.1:c.145T>G, NM_001376557.1:c.217T>G, XM_047432061.1:c.217T>G, XP_005271327.1:p.Trp49Gly, NP_115667.2:p.Trp73Gly, XP_006711024.1:p.Trp77Gly, XP_006711034.1:p.Trp77Gly, XP_006711036.1:p.Trp77Gly, XP_016857994.1:p.Trp73Gly, XP_016857996.1:p.Trp72Gly, XP_016857995.1:p.Trp73Gly, XP_016857997.1:p.Trp72Gly, XP_016857999.1:p.Trp73Gly, NP_001337146.1:p.Trp77Gly, XP_016858004.1:p.Trp49Gly, XP_016858005.1:p.Trp49Gly, XP_016858013.1:p.Trp73Gly, XP_011540593.1:p.Trp72Gly, XP_016858017.1:p.Trp49Gly, XP_016858018.1:p.Trp77Gly, XP_011540594.1:p.Trp72Gly, NP_001337147.1:p.Trp49Gly, NP_001295132.1:p.Trp49Gly, NP_001363471.1:p.Trp49Gly, NP_001363466.1:p.Trp49Gly, NP_001363463.1:p.Trp73Gly, XP_047288007.1:p.Trp49Gly, XP_047288008.1:p.Trp72Gly, NP_001363464.1:p.Trp73Gly, NP_001363467.1:p.Trp77Gly, NP_001363469.1:p.Trp73Gly, NP_001363472.1:p.Trp49Gly, NP_001363468.1:p.Trp73Gly, NP_001363470.1:p.Trp49Gly, NP_001363473.1:p.Trp49Gly, NP_001363474.1:p.Trp49Gly, XP_047288010.1:p.Trp73Gly, XP_047288014.1:p.Trp73Gly, NP_001363475.1:p.Trp77Gly, XP_047288009.1:p.Trp77Gly, NP_001363477.1:p.Trp73Gly, XP_047288012.1:p.Trp72Gly, NP_001363476.1:p.Trp73Gly, XP_047288011.1:p.Trp73Gly, NP_001363478.1:p.Trp73Gly, XP_047288013.1:p.Trp77Gly, XP_047288016.1:p.Trp72Gly, NP_001363465.1:p.Trp49Gly, NP_001363481.1:p.Trp49Gly, NP_001363479.1:p.Trp73Gly, NP_001363480.1:p.Trp49Gly, XP_047288015.1:p.Trp73Gly, NP_001363484.1:p.Trp49Gly, NP_001363483.1:p.Trp49Gly, NP_001363485.1:p.Trp49Gly, NP_001363486.1:p.Trp73Gly, XP_047288017.1:p.Trp73Gly

                                  17.

                                  rs1474099624 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:66671960 (GRCh38)
                                    1:67137643 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:66671959:A:G
                                    Gene:
                                    SGIP1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000012/3 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.66671960A>G, NC_000001.10:g.67137643A>G, XM_005271270.5:c.429A>G, XM_005271270.4:c.429A>G, XM_005271270.3:c.429A>G, XM_005271270.2:c.429A>G, XM_005271270.1:c.429A>G, NM_032291.4:c.525A>G, NM_032291.3:c.525A>G, NM_032291.2:c.525A>G, XM_006710961.3:c.537A>G, XM_006710961.2:c.537A>G, XM_006710961.1:c.537A>G, XM_006710971.3:c.537A>G, XM_006710971.2:c.537A>G, XM_006710971.1:c.537A>G, XM_006710973.3:c.513A>G, XM_006710973.2:c.513A>G, XM_006710973.1:c.513A>G, XM_017002505.2:c.525A>G, XM_017002505.1:c.525A>G, XM_017002507.2:c.522A>G, XM_017002507.1:c.522A>G, XM_017002506.2:c.525A>G, XM_017002506.1:c.525A>G, XM_017002508.2:c.522A>G, XM_017002508.1:c.522A>G, XM_017002510.2:c.501A>G, XM_017002510.1:c.501A>G, NM_001350217.2:c.537A>G, NM_001350217.1:c.537A>G, XM_017002515.2:c.429A>G, XM_017002515.1:c.429A>G, XM_017002516.2:c.429A>G, XM_017002516.1:c.429A>G, XM_017002524.2:c.501A>G, XM_017002524.1:c.501A>G, XM_011542291.2:c.522A>G, XM_011542291.1:c.522A>G, XM_017002528.2:c.429A>G, XM_017002528.1:c.429A>G, XM_017002529.2:c.537A>G, XM_017002529.1:c.537A>G, XM_011542292.2:c.522A>G, XM_011542292.1:c.522A>G, NM_001350218.2:c.453A>G, NM_001350218.1:c.453A>G, NM_001308203.2:c.429A>G, NM_001308203.1:c.429A>G, NM_001376542.1:c.453A>G, NM_001376537.1:c.453A>G, NM_001376534.1:c.525A>G, XM_047432051.1:c.453A>G, XM_047432052.1:c.498A>G, NM_001376535.1:c.525A>G, NM_001376538.1:c.537A>G, NM_001376540.1:c.525A>G, NM_001376543.1:c.453A>G, NM_001376539.1:c.525A>G, NM_001376541.1:c.453A>G, NM_001376544.1:c.453A>G, NM_001376545.1:c.453A>G, XM_047432054.1:c.501A>G, XM_047432058.1:c.501A>G, NM_001376546.1:c.537A>G, XM_047432053.1:c.513A>G, NM_001376548.1:c.501A>G, XM_047432056.1:c.498A>G, NM_001376547.1:c.501A>G, XM_047432055.1:c.501A>G, NM_001376549.1:c.501A>G, XM_047432057.1:c.513A>G, XM_047432060.1:c.498A>G, NM_001376536.1:c.429A>G, NM_001376552.1:c.429A>G, NM_001376550.1:c.501A>G, NM_001376551.1:c.429A>G, XM_047432059.1:c.501A>G, NM_001376555.1:c.429A>G, NM_001376554.1:c.429A>G, XR_007064415.1:n.743A>G, NM_001376556.1:c.453A>G, NM_001376557.1:c.501A>G, XM_047432061.1:c.501A>G

                                    18.

                                    rs1471681302 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      1:66739348 (GRCh38)
                                      1:67205031 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:66739347:G:A,NC_000001.11:66739347:G:T
                                      Gene:
                                      SGIP1 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.66739348G>A, NC_000001.11:g.66739348G>T, NC_000001.10:g.67205031G>A, NC_000001.10:g.67205031G>T, XM_005271270.5:c.1448G>A, XM_005271270.5:c.1448G>T, XM_005271270.4:c.1448G>A, XM_005271270.4:c.1448G>T, XM_005271270.3:c.1448G>A, XM_005271270.3:c.1448G>T, XM_005271270.2:c.1448G>A, XM_005271270.2:c.1448G>T, XM_005271270.1:c.1448G>A, XM_005271270.1:c.1448G>T, NM_032291.4:c.2045G>A, NM_032291.4:c.2045G>T, NM_032291.3:c.2045G>A, NM_032291.3:c.2045G>T, NM_032291.2:c.2045G>A, NM_032291.2:c.2045G>T, XM_006710961.3:c.2063G>A, XM_006710961.3:c.2063G>T, XM_006710961.2:c.2063G>A, XM_006710961.2:c.2063G>T, XM_006710961.1:c.2063G>A, XM_006710961.1:c.2063G>T, XM_006710971.3:c.1562G>A, XM_006710971.3:c.1562G>T, XM_006710971.2:c.1562G>A, XM_006710971.2:c.1562G>T, XM_006710971.1:c.1562G>A, XM_006710971.1:c.1562G>T, XM_006710973.3:c.1538G>A, XM_006710973.3:c.1538G>T, XM_006710973.2:c.1538G>A, XM_006710973.2:c.1538G>T, XM_006710973.1:c.1538G>A, XM_006710973.1:c.1538G>T, XM_017002505.2:c.2111G>A, XM_017002505.2:c.2111G>T, XM_017002505.1:c.2111G>A, XM_017002505.1:c.2111G>T, XM_017002507.2:c.2108G>A, XM_017002507.2:c.2108G>T, XM_017002507.1:c.2108G>A, XM_017002507.1:c.2108G>T, XM_017002506.2:c.2111G>A, XM_017002506.2:c.2111G>T, XM_017002506.1:c.2111G>A, XM_017002506.1:c.2111G>T, XM_017002508.2:c.2108G>A, XM_017002508.2:c.2108G>T, XM_017002508.1:c.2108G>A, XM_017002508.1:c.2108G>T, XM_017002510.2:c.2087G>A, XM_017002510.2:c.2087G>T, XM_017002510.1:c.2087G>A, XM_017002510.1:c.2087G>T, NM_001350217.2:c.2057G>A, NM_001350217.2:c.2057G>T, NM_001350217.1:c.2057G>A, NM_001350217.1:c.2057G>T, XM_017002515.2:c.2015G>A, XM_017002515.2:c.2015G>T, XM_017002515.1:c.2015G>A, XM_017002515.1:c.2015G>T, XM_017002516.2:c.2015G>A, XM_017002516.2:c.2015G>T, XM_017002516.1:c.2015G>A, XM_017002516.1:c.2015G>T, XM_017002524.2:c.1586G>A, XM_017002524.2:c.1586G>T, XM_017002524.1:c.1586G>A, XM_017002524.1:c.1586G>T, XM_011542291.2:c.1541G>A, XM_011542291.2:c.1541G>T, XM_011542291.1:c.1541G>A, XM_011542291.1:c.1541G>T, XM_017002528.2:c.1514G>A, XM_017002528.2:c.1514G>T, XM_017002528.1:c.1514G>A, XM_017002528.1:c.1514G>T, XM_017002529.2:c.1496G>A, XM_017002529.2:c.1496G>T, XM_017002529.1:c.1496G>A, XM_017002529.1:c.1496G>T, XM_011542292.2:c.1481G>A, XM_011542292.2:c.1481G>T, XM_011542292.1:c.1481G>A, XM_011542292.1:c.1481G>T, NM_001350218.2:c.1472G>A, NM_001350218.2:c.1472G>T, NM_001350218.1:c.1472G>A, NM_001350218.1:c.1472G>T, NM_001308203.2:c.1454G>A, NM_001308203.2:c.1454G>T, NM_001308203.1:c.1454G>A, NM_001308203.1:c.1454G>T, NM_001376542.1:c.1973G>A, NM_001376542.1:c.1973G>T, NM_001376537.1:c.2039G>A, NM_001376537.1:c.2039G>T, NM_001376534.1:c.2045G>A, NM_001376534.1:c.2045G>T, XM_047432051.1:c.2039G>A, XM_047432051.1:c.2039G>T, XM_047432052.1:c.2018G>A, XM_047432052.1:c.2018G>T, NM_001376535.1:c.2045G>A, NM_001376535.1:c.2045G>T, NM_001376538.1:c.1997G>A, NM_001376538.1:c.1997G>T, NM_001376540.1:c.1985G>A, NM_001376540.1:c.1985G>T, NM_001376543.1:c.1973G>A, NM_001376543.1:c.1973G>T, NM_001376539.1:c.1985G>A, NM_001376539.1:c.1985G>T, NM_001376541.1:c.1973G>A, NM_001376541.1:c.1973G>T, NM_001376544.1:c.1913G>A, NM_001376544.1:c.1913G>T, NM_001376545.1:c.1913G>A, NM_001376545.1:c.1913G>T, XM_047432054.1:c.1520G>A, XM_047432054.1:c.1520G>T, XM_047432058.1:c.1460G>A, XM_047432058.1:c.1460G>T, NM_001376546.1:c.1556G>A, NM_001376546.1:c.1556G>T, XM_047432053.1:c.1532G>A, XM_047432053.1:c.1532G>T, NM_001376548.1:c.1520G>A, NM_001376548.1:c.1520G>T, XM_047432056.1:c.1517G>A, XM_047432056.1:c.1517G>T, NM_001376547.1:c.1526G>A, NM_001376547.1:c.1526G>T, XM_047432055.1:c.1520G>A, XM_047432055.1:c.1520G>T, NM_001376549.1:c.1520G>A, NM_001376549.1:c.1520G>T, XM_047432057.1:c.1472G>A, XM_047432057.1:c.1472G>T, XM_047432060.1:c.1457G>A, XM_047432060.1:c.1457G>T, NM_001376536.1:c.1454G>A, NM_001376536.1:c.1454G>T, NM_001376552.1:c.1448G>A, NM_001376552.1:c.1448G>T, NM_001376550.1:c.1460G>A, NM_001376550.1:c.1460G>T, NM_001376551.1:c.1448G>A, NM_001376551.1:c.1448G>T, XM_047432059.1:c.1460G>A, XM_047432059.1:c.1460G>T, NM_001376555.1:c.1388G>A, NM_001376555.1:c.1388G>T, NM_001376554.1:c.1388G>A, NM_001376554.1:c.1388G>T, XP_005271327.1:p.Gly483Asp, XP_005271327.1:p.Gly483Val, NP_115667.2:p.Gly682Asp, NP_115667.2:p.Gly682Val, XP_006711024.1:p.Gly688Asp, XP_006711024.1:p.Gly688Val, XP_006711034.1:p.Gly521Asp, XP_006711034.1:p.Gly521Val, XP_006711036.1:p.Gly513Asp, XP_006711036.1:p.Gly513Val, XP_016857994.1:p.Gly704Asp, XP_016857994.1:p.Gly704Val, XP_016857996.1:p.Gly703Asp, XP_016857996.1:p.Gly703Val, XP_016857995.1:p.Gly704Asp, XP_016857995.1:p.Gly704Val, XP_016857997.1:p.Gly703Asp, XP_016857997.1:p.Gly703Val, XP_016857999.1:p.Gly696Asp, XP_016857999.1:p.Gly696Val, NP_001337146.1:p.Gly686Asp, NP_001337146.1:p.Gly686Val, XP_016858004.1:p.Gly672Asp, XP_016858004.1:p.Gly672Val, XP_016858005.1:p.Gly672Asp, XP_016858005.1:p.Gly672Val, XP_016858013.1:p.Gly529Asp, XP_016858013.1:p.Gly529Val, XP_011540593.1:p.Gly514Asp, XP_011540593.1:p.Gly514Val, XP_016858017.1:p.Gly505Asp, XP_016858017.1:p.Gly505Val, XP_016858018.1:p.Gly499Asp, XP_016858018.1:p.Gly499Val, XP_011540594.1:p.Gly494Asp, XP_011540594.1:p.Gly494Val, NP_001337147.1:p.Gly491Asp, NP_001337147.1:p.Gly491Val, NP_001295132.1:p.Gly485Asp, NP_001295132.1:p.Gly485Val, NP_001363471.1:p.Gly658Asp, NP_001363471.1:p.Gly658Val, NP_001363466.1:p.Gly680Asp, NP_001363466.1:p.Gly680Val, NP_001363463.1:p.Gly682Asp, NP_001363463.1:p.Gly682Val, XP_047288007.1:p.Gly680Asp, XP_047288007.1:p.Gly680Val, XP_047288008.1:p.Gly673Asp, XP_047288008.1:p.Gly673Val, NP_001363464.1:p.Gly682Asp, NP_001363464.1:p.Gly682Val, NP_001363467.1:p.Gly666Asp, NP_001363467.1:p.Gly666Val, NP_001363469.1:p.Gly662Asp, NP_001363469.1:p.Gly662Val, NP_001363472.1:p.Gly658Asp, NP_001363472.1:p.Gly658Val, NP_001363468.1:p.Gly662Asp, NP_001363468.1:p.Gly662Val, NP_001363470.1:p.Gly658Asp, NP_001363470.1:p.Gly658Val, NP_001363473.1:p.Gly638Asp, NP_001363473.1:p.Gly638Val, NP_001363474.1:p.Gly638Asp, NP_001363474.1:p.Gly638Val, XP_047288010.1:p.Gly507Asp, XP_047288010.1:p.Gly507Val, XP_047288014.1:p.Gly487Asp, XP_047288014.1:p.Gly487Val, NP_001363475.1:p.Gly519Asp, NP_001363475.1:p.Gly519Val, XP_047288009.1:p.Gly511Asp, XP_047288009.1:p.Gly511Val, NP_001363477.1:p.Gly507Asp, NP_001363477.1:p.Gly507Val, XP_047288012.1:p.Gly506Asp, XP_047288012.1:p.Gly506Val, NP_001363476.1:p.Gly509Asp, NP_001363476.1:p.Gly509Val, XP_047288011.1:p.Gly507Asp, XP_047288011.1:p.Gly507Val, NP_001363478.1:p.Gly507Asp, NP_001363478.1:p.Gly507Val, XP_047288013.1:p.Gly491Asp, XP_047288013.1:p.Gly491Val, XP_047288016.1:p.Gly486Asp, XP_047288016.1:p.Gly486Val, NP_001363465.1:p.Gly485Asp, NP_001363465.1:p.Gly485Val, NP_001363481.1:p.Gly483Asp, NP_001363481.1:p.Gly483Val, NP_001363479.1:p.Gly487Asp, NP_001363479.1:p.Gly487Val, NP_001363480.1:p.Gly483Asp, NP_001363480.1:p.Gly483Val, XP_047288015.1:p.Gly487Asp, XP_047288015.1:p.Gly487Val, NP_001363484.1:p.Gly463Asp, NP_001363484.1:p.Gly463Val, NP_001363483.1:p.Gly463Asp, NP_001363483.1:p.Gly463Val

                                      19.

                                      rs1468427706 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->GAC [Show Flanks]
                                        Chromosome:
                                        1:66689164 (GRCh38)
                                        1:67154848 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:66689164:CGAC:CGACGAC
                                        Gene:
                                        SGIP1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,inframe_insertion,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        CGA=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.66689166_66689168dup, NC_000001.10:g.67154849_67154851dup, XM_005271270.5:c.737_739dup, XM_005271270.4:c.737_739dup, XM_005271270.3:c.737_739dup, XM_005271270.2:c.737_739dup, XM_005271270.1:c.737_739dup, NM_032291.4:c.1334_1336dup, NM_032291.3:c.1334_1336dup, NM_032291.2:c.1334_1336dup, XM_006710961.3:c.1346_1348dup, XM_006710961.2:c.1346_1348dup, XM_006710961.1:c.1346_1348dup, XM_006710971.3:c.845_847dup, XM_006710971.2:c.845_847dup, XM_006710971.1:c.845_847dup, XM_006710973.3:c.821_823dup, XM_006710973.2:c.821_823dup, XM_006710973.1:c.821_823dup, XM_017002505.2:c.1334_1336dup, XM_017002505.1:c.1334_1336dup, XM_017002507.2:c.1331_1333dup, XM_017002507.1:c.1331_1333dup, XM_017002506.2:c.1334_1336dup, XM_017002506.1:c.1334_1336dup, XM_017002508.2:c.1331_1333dup, XM_017002508.1:c.1331_1333dup, XM_017002510.2:c.1310_1312dup, XM_017002510.1:c.1310_1312dup, NM_001350217.2:c.1346_1348dup, NM_001350217.1:c.1346_1348dup, XM_017002515.2:c.1238_1240dup, XM_017002515.1:c.1238_1240dup, XM_017002516.2:c.1238_1240dup, XM_017002516.1:c.1238_1240dup, XM_017002524.2:c.809_811dup, XM_017002524.1:c.809_811dup, XM_011542291.2:c.830_832dup, XM_011542291.1:c.830_832dup, XM_017002528.2:c.737_739dup, XM_017002528.1:c.737_739dup, XM_017002529.2:c.845_847dup, XM_017002529.1:c.845_847dup, XM_011542292.2:c.830_832dup, XM_011542292.1:c.830_832dup, NM_001350218.2:c.761_763dup, NM_001350218.1:c.761_763dup, NM_001308203.2:c.737_739dup, NM_001308203.1:c.737_739dup, NM_001376542.1:c.1262_1264dup, NM_001376537.1:c.1262_1264dup, NM_001376534.1:c.1334_1336dup, XM_047432051.1:c.1262_1264dup, XM_047432052.1:c.1307_1309dup, NM_001376535.1:c.1334_1336dup, NM_001376538.1:c.1346_1348dup, NM_001376540.1:c.1334_1336dup, NM_001376543.1:c.1262_1264dup, NM_001376539.1:c.1334_1336dup, NM_001376541.1:c.1262_1264dup, NM_001376544.1:c.1262_1264dup, NM_001376545.1:c.1262_1264dup, XM_047432054.1:c.809_811dup, XM_047432058.1:c.809_811dup, NM_001376546.1:c.845_847dup, XM_047432053.1:c.821_823dup, NM_001376548.1:c.809_811dup, XM_047432056.1:c.806_808dup, NM_001376547.1:c.809_811dup, XM_047432055.1:c.809_811dup, NM_001376549.1:c.809_811dup, XM_047432057.1:c.821_823dup, XM_047432060.1:c.806_808dup, NM_001376536.1:c.737_739dup, NM_001376552.1:c.737_739dup, NM_001376550.1:c.809_811dup, NM_001376551.1:c.737_739dup, XM_047432059.1:c.809_811dup, NM_001376555.1:c.737_739dup, NM_001376554.1:c.737_739dup, XR_007064415.1:n.1552_1554dup, NM_001376556.1:c.1262_1264dup, NM_001376557.1:c.809_811dup, XM_047432061.1:c.809_811dup, XP_005271327.1:p.Arg246dup, NP_115667.2:p.Arg445dup, XP_006711024.1:p.Arg449dup, XP_006711034.1:p.Arg282dup, XP_006711036.1:p.Arg274dup, XP_016857994.1:p.Arg445dup, XP_016857996.1:p.Arg444dup, XP_016857995.1:p.Arg445dup, XP_016857997.1:p.Arg444dup, XP_016857999.1:p.Arg437dup, NP_001337146.1:p.Arg449dup, XP_016858004.1:p.Arg413dup, XP_016858005.1:p.Arg413dup, XP_016858013.1:p.Arg270dup, XP_011540593.1:p.Arg277dup, XP_016858017.1:p.Arg246dup, XP_016858018.1:p.Arg282dup, XP_011540594.1:p.Arg277dup, NP_001337147.1:p.Arg254dup, NP_001295132.1:p.Arg246dup, NP_001363471.1:p.Arg421dup, NP_001363466.1:p.Arg421dup, NP_001363463.1:p.Arg445dup, XP_047288007.1:p.Arg421dup, XP_047288008.1:p.Arg436dup, NP_001363464.1:p.Arg445dup, NP_001363467.1:p.Arg449dup, NP_001363469.1:p.Arg445dup, NP_001363472.1:p.Arg421dup, NP_001363468.1:p.Arg445dup, NP_001363470.1:p.Arg421dup, NP_001363473.1:p.Arg421dup, NP_001363474.1:p.Arg421dup, XP_047288010.1:p.Arg270dup, XP_047288014.1:p.Arg270dup, NP_001363475.1:p.Arg282dup, XP_047288009.1:p.Arg274dup, NP_001363477.1:p.Arg270dup, XP_047288012.1:p.Arg269dup, NP_001363476.1:p.Arg270dup, XP_047288011.1:p.Arg270dup, NP_001363478.1:p.Arg270dup, XP_047288013.1:p.Arg274dup, XP_047288016.1:p.Arg269dup, NP_001363465.1:p.Arg246dup, NP_001363481.1:p.Arg246dup, NP_001363479.1:p.Arg270dup, NP_001363480.1:p.Arg246dup, XP_047288015.1:p.Arg270dup, NP_001363484.1:p.Arg246dup, NP_001363483.1:p.Arg246dup, NP_001363485.1:p.Arg421dup, NP_001363486.1:p.Arg270dup, XP_047288017.1:p.Arg270dup

                                        20.

                                        rs1467847259 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:66694468 (GRCh38)
                                          1:67160151 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:66694467:C:T
                                          Gene:
                                          SGIP1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.66694468C>T, NC_000001.10:g.67160151C>T, XM_006710961.3:c.1612C>T, XM_006710961.2:c.1612C>T, XM_006710961.1:c.1612C>T, XM_006710971.3:c.1111C>T, XM_006710971.2:c.1111C>T, XM_006710971.1:c.1111C>T, XM_006710973.3:c.1087C>T, XM_006710973.2:c.1087C>T, XM_006710973.1:c.1087C>T, XM_017002505.2:c.1600C>T, XM_017002505.1:c.1600C>T, XM_017002507.2:c.1597C>T, XM_017002507.1:c.1597C>T, XM_017002506.2:c.1600C>T, XM_017002506.1:c.1600C>T, XM_017002508.2:c.1597C>T, XM_017002508.1:c.1597C>T, XM_017002510.2:c.1576C>T, XM_017002510.1:c.1576C>T, XM_017002515.2:c.1504C>T, XM_017002515.1:c.1504C>T, XM_017002516.2:c.1504C>T, XM_017002516.1:c.1504C>T, XM_017002524.2:c.1075C>T, XM_017002524.1:c.1075C>T, XM_017002528.2:c.1003C>T, XM_017002528.1:c.1003C>T, NM_001308203.2:c.1003C>T, NM_001308203.1:c.1003C>T, NM_001376537.1:c.1528C>T, XM_047432051.1:c.1528C>T, NM_001376547.1:c.1075C>T, NM_001376536.1:c.1003C>T, XR_007064415.1:n.1691C>T

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