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Items: 1 to 20 of 623

1.

rs1490995569 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    12:76399945 (GRCh38)
    12:76793725 (GRCh37)
    Canonical SPDI:
    NC_000012.12:76399944:C:T
    Gene:
    OSBPL8 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.76399945C>T, NC_000012.11:g.76793725C>T, XM_005268621.6:c.396G>A, XM_005268621.5:c.396G>A, XM_005268621.4:c.396G>A, XM_005268621.3:c.396G>A, XM_005268621.2:c.396G>A, XM_005268621.1:c.396G>A, NM_020841.5:c.396G>A, NM_020841.4:c.396G>A, XM_011537857.4:c.435G>A, XM_011537857.3:c.435G>A, XM_011537857.2:c.435G>A, XM_011537857.1:c.435G>A, XM_011537856.4:c.435G>A, XM_011537856.3:c.435G>A, XM_011537856.2:c.435G>A, XM_011537856.1:c.435G>A, XM_017018768.3:c.465G>A, XM_017018768.2:c.465G>A, XM_017018768.1:c.465G>A, XM_017018769.3:c.387G>A, XM_017018769.2:c.387G>A, XM_017018769.1:c.387G>A, NM_001319655.2:c.321G>A, NM_001319655.1:c.321G>A, NM_001319652.2:c.270G>A, NM_001319652.1:c.270G>A, NM_001319653.2:c.387G>A, NM_001319653.1:c.387G>A, NM_001003712.2:c.270G>A, NM_001003712.1:c.270G>A, XM_047428248.1:c.435G>A, XM_047428246.1:c.504G>A, XM_047428254.1:c.270G>A, XM_047428249.1:c.435G>A, XM_047428250.1:c.396G>A, XM_047428247.1:c.456G>A, XM_047428251.1:c.396G>A, XM_047428252.1:c.357G>A, XM_047428253.1:c.348G>A, XM_047428255.1:c.270G>A

    2.

    rs1490506323 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      12:76394651 (GRCh38)
      12:76788431 (GRCh37)
      Canonical SPDI:
      NC_000012.12:76394650:A:T
      Gene:
      OSBPL8 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000012.12:g.76394651A>T, NC_000012.11:g.76788431A>T, XM_005268621.6:c.751T>A, XM_005268621.5:c.751T>A, XM_005268621.4:c.751T>A, XM_005268621.3:c.751T>A, XM_005268621.2:c.751T>A, XM_005268621.1:c.751T>A, NM_020841.5:c.751T>A, NM_020841.4:c.751T>A, XM_011537857.4:c.790T>A, XM_011537857.3:c.790T>A, XM_011537857.2:c.790T>A, XM_011537857.1:c.790T>A, XM_011537856.4:c.790T>A, XM_011537856.3:c.790T>A, XM_011537856.2:c.790T>A, XM_011537856.1:c.790T>A, XM_017018768.3:c.820T>A, XM_017018768.2:c.820T>A, XM_017018768.1:c.820T>A, XM_017018769.3:c.742T>A, XM_017018769.2:c.742T>A, XM_017018769.1:c.742T>A, NM_001319655.2:c.676T>A, NM_001319655.1:c.676T>A, NM_001319652.2:c.625T>A, NM_001319652.1:c.625T>A, NM_001319653.2:c.742T>A, NM_001319653.1:c.742T>A, NM_001003712.2:c.625T>A, NM_001003712.1:c.625T>A, XM_047428248.1:c.790T>A, XM_047428246.1:c.859T>A, XM_047428254.1:c.625T>A, XM_047428249.1:c.790T>A, XM_047428250.1:c.751T>A, XM_047428247.1:c.811T>A, XM_047428251.1:c.751T>A, XM_047428252.1:c.712T>A, XM_047428253.1:c.703T>A, XM_047428255.1:c.625T>A, XP_005268678.1:p.Ser251Thr, NP_065892.1:p.Ser251Thr, XP_011536159.1:p.Ser264Thr, XP_011536158.1:p.Ser264Thr, XP_016874257.1:p.Ser274Thr, XP_016874258.1:p.Ser248Thr, NP_001306584.1:p.Ser226Thr, NP_001306581.1:p.Ser209Thr, NP_001306582.1:p.Ser248Thr, NP_001003712.1:p.Ser209Thr, XP_047284204.1:p.Ser264Thr, XP_047284202.1:p.Ser287Thr, XP_047284210.1:p.Ser209Thr, XP_047284205.1:p.Ser264Thr, XP_047284206.1:p.Ser251Thr, XP_047284203.1:p.Ser271Thr, XP_047284207.1:p.Ser251Thr, XP_047284208.1:p.Ser238Thr, XP_047284209.1:p.Ser235Thr, XP_047284211.1:p.Ser209Thr

      3.

      rs1486188852 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:76390652 (GRCh38)
        12:76784432 (GRCh37)
        Canonical SPDI:
        NC_000012.12:76390651:T:C
        Gene:
        OSBPL8 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000029/4 (GnomAD)
        C=0.00006/16 (TOPMED)
        HGVS:
        NC_000012.12:g.76390652T>C, NC_000012.11:g.76784432T>C, XM_005268621.6:c.935A>G, XM_005268621.5:c.935A>G, XM_005268621.4:c.935A>G, XM_005268621.3:c.935A>G, XM_005268621.2:c.935A>G, XM_005268621.1:c.935A>G, NM_020841.5:c.935A>G, NM_020841.4:c.935A>G, XM_011537857.4:c.974A>G, XM_011537857.3:c.974A>G, XM_011537857.2:c.974A>G, XM_011537857.1:c.974A>G, XM_011537856.4:c.974A>G, XM_011537856.3:c.974A>G, XM_011537856.2:c.974A>G, XM_011537856.1:c.974A>G, XM_017018768.3:c.1004A>G, XM_017018768.2:c.1004A>G, XM_017018768.1:c.1004A>G, XM_017018769.3:c.926A>G, XM_017018769.2:c.926A>G, XM_017018769.1:c.926A>G, NM_001319655.2:c.860A>G, NM_001319655.1:c.860A>G, NM_001319652.2:c.809A>G, NM_001319652.1:c.809A>G, NM_001319653.2:c.926A>G, NM_001319653.1:c.926A>G, NM_001003712.2:c.809A>G, NM_001003712.1:c.809A>G, XM_047428248.1:c.974A>G, XM_047428246.1:c.1043A>G, XM_047428254.1:c.809A>G, XM_047428249.1:c.974A>G, XM_047428250.1:c.935A>G, XM_047428247.1:c.995A>G, XM_047428251.1:c.935A>G, XM_047428252.1:c.896A>G, XM_047428253.1:c.887A>G, XM_047428255.1:c.809A>G, XP_005268678.1:p.Asn312Ser, NP_065892.1:p.Asn312Ser, XP_011536159.1:p.Asn325Ser, XP_011536158.1:p.Asn325Ser, XP_016874257.1:p.Asn335Ser, XP_016874258.1:p.Asn309Ser, NP_001306584.1:p.Asn287Ser, NP_001306581.1:p.Asn270Ser, NP_001306582.1:p.Asn309Ser, NP_001003712.1:p.Asn270Ser, XP_047284204.1:p.Asn325Ser, XP_047284202.1:p.Asn348Ser, XP_047284210.1:p.Asn270Ser, XP_047284205.1:p.Asn325Ser, XP_047284206.1:p.Asn312Ser, XP_047284203.1:p.Asn332Ser, XP_047284207.1:p.Asn312Ser, XP_047284208.1:p.Asn299Ser, XP_047284209.1:p.Asn296Ser, XP_047284211.1:p.Asn270Ser

        4.

        rs1486145574 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          12:76356696 (GRCh38)
          12:76750476 (GRCh37)
          Canonical SPDI:
          NC_000012.12:76356695:T:C
          Gene:
          OSBPL8 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          HGVS:
          NC_000012.12:g.76356696T>C, NC_000012.11:g.76750476T>C, XM_005268621.6:c.2467A>G, XM_005268621.5:c.2467A>G, XM_005268621.4:c.2467A>G, XM_005268621.3:c.2467A>G, XM_005268621.2:c.2467A>G, XM_005268621.1:c.2467A>G, NM_020841.5:c.2467A>G, NM_020841.4:c.2467A>G, XM_011537857.4:c.2506A>G, XM_011537857.3:c.2506A>G, XM_011537857.2:c.2506A>G, XM_011537857.1:c.2506A>G, XM_011537856.4:c.2506A>G, XM_011537856.3:c.2506A>G, XM_011537856.2:c.2506A>G, XM_011537856.1:c.2506A>G, XM_017018768.3:c.2536A>G, XM_017018768.2:c.2536A>G, XM_017018768.1:c.2536A>G, XM_017018769.3:c.2458A>G, XM_017018769.2:c.2458A>G, XM_017018769.1:c.2458A>G, NM_001319655.2:c.2392A>G, NM_001319655.1:c.2392A>G, NM_001319652.2:c.2341A>G, NM_001319652.1:c.2341A>G, NM_001319653.2:c.2458A>G, NM_001319653.1:c.2458A>G, NM_001003712.2:c.2341A>G, NM_001003712.1:c.2341A>G, XM_047428248.1:c.2506A>G, XM_047428246.1:c.2575A>G, XM_047428254.1:c.2341A>G, XM_047428249.1:c.2506A>G, XM_047428250.1:c.2467A>G, XM_047428247.1:c.2527A>G, XM_047428251.1:c.2467A>G, XM_047428252.1:c.2428A>G, XM_047428253.1:c.2419A>G, XM_047428255.1:c.2341A>G, XP_005268678.1:p.Lys823Glu, NP_065892.1:p.Lys823Glu, XP_011536159.1:p.Lys836Glu, XP_011536158.1:p.Lys836Glu, XP_016874257.1:p.Lys846Glu, XP_016874258.1:p.Lys820Glu, NP_001306584.1:p.Lys798Glu, NP_001306581.1:p.Lys781Glu, NP_001306582.1:p.Lys820Glu, NP_001003712.1:p.Lys781Glu, XP_047284204.1:p.Lys836Glu, XP_047284202.1:p.Lys859Glu, XP_047284210.1:p.Lys781Glu, XP_047284205.1:p.Lys836Glu, XP_047284206.1:p.Lys823Glu, XP_047284203.1:p.Lys843Glu, XP_047284207.1:p.Lys823Glu, XP_047284208.1:p.Lys810Glu, XP_047284209.1:p.Lys807Glu, XP_047284211.1:p.Lys781Glu

          5.

          rs1485578694 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            12:76371564 (GRCh38)
            12:76765344 (GRCh37)
            Canonical SPDI:
            NC_000012.12:76371563:A:C
            Gene:
            OSBPL8 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.76371564A>C, NC_000012.11:g.76765344A>C, XM_005268621.6:c.1938T>G, XM_005268621.5:c.1938T>G, XM_005268621.4:c.1938T>G, XM_005268621.3:c.1938T>G, XM_005268621.2:c.1938T>G, XM_005268621.1:c.1938T>G, NM_020841.5:c.1938T>G, NM_020841.4:c.1938T>G, XM_011537857.4:c.1977T>G, XM_011537857.3:c.1977T>G, XM_011537857.2:c.1977T>G, XM_011537857.1:c.1977T>G, XM_011537856.4:c.1977T>G, XM_011537856.3:c.1977T>G, XM_011537856.2:c.1977T>G, XM_011537856.1:c.1977T>G, XM_017018768.3:c.2007T>G, XM_017018768.2:c.2007T>G, XM_017018768.1:c.2007T>G, XM_017018769.3:c.1929T>G, XM_017018769.2:c.1929T>G, XM_017018769.1:c.1929T>G, NM_001319655.2:c.1863T>G, NM_001319655.1:c.1863T>G, NM_001319652.2:c.1812T>G, NM_001319652.1:c.1812T>G, NM_001319653.2:c.1929T>G, NM_001319653.1:c.1929T>G, NM_001003712.2:c.1812T>G, NM_001003712.1:c.1812T>G, XM_047428248.1:c.1977T>G, XM_047428246.1:c.2046T>G, XM_047428254.1:c.1812T>G, XM_047428249.1:c.1977T>G, XM_047428250.1:c.1938T>G, XM_047428247.1:c.1998T>G, XM_047428251.1:c.1938T>G, XM_047428252.1:c.1899T>G, XM_047428253.1:c.1890T>G, XM_047428255.1:c.1812T>G

            6.

            rs1485496922 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              12:76369751 (GRCh38)
              12:76763531 (GRCh37)
              Canonical SPDI:
              NC_000012.12:76369750:A:G
              Gene:
              OSBPL8 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000012.12:g.76369751A>G, NC_000012.11:g.76763531A>G, XM_005268621.6:c.2126T>C, XM_005268621.5:c.2126T>C, XM_005268621.4:c.2126T>C, XM_005268621.3:c.2126T>C, XM_005268621.2:c.2126T>C, XM_005268621.1:c.2126T>C, NM_020841.5:c.2126T>C, NM_020841.4:c.2126T>C, XM_011537857.4:c.2165T>C, XM_011537857.3:c.2165T>C, XM_011537857.2:c.2165T>C, XM_011537857.1:c.2165T>C, XM_011537856.4:c.2165T>C, XM_011537856.3:c.2165T>C, XM_011537856.2:c.2165T>C, XM_011537856.1:c.2165T>C, XM_017018768.3:c.2195T>C, XM_017018768.2:c.2195T>C, XM_017018768.1:c.2195T>C, XM_017018769.3:c.2117T>C, XM_017018769.2:c.2117T>C, XM_017018769.1:c.2117T>C, NM_001319655.2:c.2051T>C, NM_001319655.1:c.2051T>C, NM_001319652.2:c.2000T>C, NM_001319652.1:c.2000T>C, NM_001319653.2:c.2117T>C, NM_001319653.1:c.2117T>C, NM_001003712.2:c.2000T>C, NM_001003712.1:c.2000T>C, XM_047428248.1:c.2165T>C, XM_047428246.1:c.2234T>C, XM_047428254.1:c.2000T>C, XM_047428249.1:c.2165T>C, XM_047428250.1:c.2126T>C, XM_047428247.1:c.2186T>C, XM_047428251.1:c.2126T>C, XM_047428252.1:c.2087T>C, XM_047428253.1:c.2078T>C, XM_047428255.1:c.2000T>C, XP_005268678.1:p.Leu709Ser, NP_065892.1:p.Leu709Ser, XP_011536159.1:p.Leu722Ser, XP_011536158.1:p.Leu722Ser, XP_016874257.1:p.Leu732Ser, XP_016874258.1:p.Leu706Ser, NP_001306584.1:p.Leu684Ser, NP_001306581.1:p.Leu667Ser, NP_001306582.1:p.Leu706Ser, NP_001003712.1:p.Leu667Ser, XP_047284204.1:p.Leu722Ser, XP_047284202.1:p.Leu745Ser, XP_047284210.1:p.Leu667Ser, XP_047284205.1:p.Leu722Ser, XP_047284206.1:p.Leu709Ser, XP_047284203.1:p.Leu729Ser, XP_047284207.1:p.Leu709Ser, XP_047284208.1:p.Leu696Ser, XP_047284209.1:p.Leu693Ser, XP_047284211.1:p.Leu667Ser

              7.

              rs1485313494 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                12:76390593 (GRCh38)
                12:76784373 (GRCh37)
                Canonical SPDI:
                NC_000012.12:76390592:C:T
                Gene:
                OSBPL8 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000012.12:g.76390593C>T, NC_000012.11:g.76784373C>T, XM_005268621.6:c.994G>A, XM_005268621.5:c.994G>A, XM_005268621.4:c.994G>A, XM_005268621.3:c.994G>A, XM_005268621.2:c.994G>A, XM_005268621.1:c.994G>A, NM_020841.5:c.994G>A, NM_020841.4:c.994G>A, XM_011537857.4:c.1033G>A, XM_011537857.3:c.1033G>A, XM_011537857.2:c.1033G>A, XM_011537857.1:c.1033G>A, XM_011537856.4:c.1033G>A, XM_011537856.3:c.1033G>A, XM_011537856.2:c.1033G>A, XM_011537856.1:c.1033G>A, XM_017018768.3:c.1063G>A, XM_017018768.2:c.1063G>A, XM_017018768.1:c.1063G>A, XM_017018769.3:c.985G>A, XM_017018769.2:c.985G>A, XM_017018769.1:c.985G>A, NM_001319655.2:c.919G>A, NM_001319655.1:c.919G>A, NM_001319652.2:c.868G>A, NM_001319652.1:c.868G>A, NM_001319653.2:c.985G>A, NM_001319653.1:c.985G>A, NM_001003712.2:c.868G>A, NM_001003712.1:c.868G>A, XM_047428248.1:c.1033G>A, XM_047428246.1:c.1102G>A, XM_047428254.1:c.868G>A, XM_047428249.1:c.1033G>A, XM_047428250.1:c.994G>A, XM_047428247.1:c.1054G>A, XM_047428251.1:c.994G>A, XM_047428252.1:c.955G>A, XM_047428253.1:c.946G>A, XM_047428255.1:c.868G>A, XP_005268678.1:p.Asp332Asn, NP_065892.1:p.Asp332Asn, XP_011536159.1:p.Asp345Asn, XP_011536158.1:p.Asp345Asn, XP_016874257.1:p.Asp355Asn, XP_016874258.1:p.Asp329Asn, NP_001306584.1:p.Asp307Asn, NP_001306581.1:p.Asp290Asn, NP_001306582.1:p.Asp329Asn, NP_001003712.1:p.Asp290Asn, XP_047284204.1:p.Asp345Asn, XP_047284202.1:p.Asp368Asn, XP_047284210.1:p.Asp290Asn, XP_047284205.1:p.Asp345Asn, XP_047284206.1:p.Asp332Asn, XP_047284203.1:p.Asp352Asn, XP_047284207.1:p.Asp332Asn, XP_047284208.1:p.Asp319Asn, XP_047284209.1:p.Asp316Asn, XP_047284211.1:p.Asp290Asn

                8.

                rs1484820909 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  12:76410573 (GRCh38)
                  12:76804353 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:76410572:T:A
                  Gene:
                  OSBPL8 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000047/1 (ALFA)
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.76410573T>A, NC_000012.11:g.76804353T>A, XM_005268621.6:c.279A>T, XM_005268621.5:c.279A>T, XM_005268621.4:c.279A>T, XM_005268621.3:c.279A>T, XM_005268621.2:c.279A>T, XM_005268621.1:c.279A>T, NM_020841.5:c.279A>T, NM_020841.4:c.279A>T, XM_011537857.4:c.318A>T, XM_011537857.3:c.318A>T, XM_011537857.2:c.318A>T, XM_011537857.1:c.318A>T, XM_011537856.4:c.318A>T, XM_011537856.3:c.318A>T, XM_011537856.2:c.318A>T, XM_011537856.1:c.318A>T, XM_017018768.3:c.348A>T, XM_017018768.2:c.348A>T, XM_017018768.1:c.348A>T, XM_017018769.3:c.270A>T, XM_017018769.2:c.270A>T, XM_017018769.1:c.270A>T, NM_001319655.2:c.204A>T, NM_001319655.1:c.204A>T, NM_001319652.2:c.153A>T, NM_001319652.1:c.153A>T, NM_001319653.2:c.270A>T, NM_001319653.1:c.270A>T, NM_001003712.2:c.153A>T, NM_001003712.1:c.153A>T, XM_047428248.1:c.318A>T, XM_047428246.1:c.387A>T, XM_047428254.1:c.153A>T, XM_047428249.1:c.318A>T, XM_047428250.1:c.279A>T, XM_047428247.1:c.339A>T, XM_047428251.1:c.279A>T, XM_047428252.1:c.240A>T, XM_047428253.1:c.231A>T, XM_047428255.1:c.153A>T

                  9.

                  rs1482291946 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    12:76384333 (GRCh38)
                    12:76778113 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:76384332:T:A,NC_000012.12:76384332:T:C
                    Gene:
                    OSBPL8 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000051/1 (ALFA)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000012.12:g.76384333T>A, NC_000012.12:g.76384333T>C, NC_000012.11:g.76778113T>A, NC_000012.11:g.76778113T>C, XM_005268621.6:c.1551A>T, XM_005268621.6:c.1551A>G, XM_005268621.5:c.1551A>T, XM_005268621.5:c.1551A>G, XM_005268621.4:c.1551A>T, XM_005268621.4:c.1551A>G, XM_005268621.3:c.1551A>T, XM_005268621.3:c.1551A>G, XM_005268621.2:c.1551A>T, XM_005268621.2:c.1551A>G, XM_005268621.1:c.1551A>T, XM_005268621.1:c.1551A>G, NM_020841.5:c.1551A>T, NM_020841.5:c.1551A>G, NM_020841.4:c.1551A>T, NM_020841.4:c.1551A>G, XM_011537857.4:c.1590A>T, XM_011537857.4:c.1590A>G, XM_011537857.3:c.1590A>T, XM_011537857.3:c.1590A>G, XM_011537857.2:c.1590A>T, XM_011537857.2:c.1590A>G, XM_011537857.1:c.1590A>T, XM_011537857.1:c.1590A>G, XM_011537856.4:c.1590A>T, XM_011537856.4:c.1590A>G, XM_011537856.3:c.1590A>T, XM_011537856.3:c.1590A>G, XM_011537856.2:c.1590A>T, XM_011537856.2:c.1590A>G, XM_011537856.1:c.1590A>T, XM_011537856.1:c.1590A>G, XM_017018768.3:c.1620A>T, XM_017018768.3:c.1620A>G, XM_017018768.2:c.1620A>T, XM_017018768.2:c.1620A>G, XM_017018768.1:c.1620A>T, XM_017018768.1:c.1620A>G, XM_017018769.3:c.1542A>T, XM_017018769.3:c.1542A>G, XM_017018769.2:c.1542A>T, XM_017018769.2:c.1542A>G, XM_017018769.1:c.1542A>T, XM_017018769.1:c.1542A>G, NM_001319655.2:c.1476A>T, NM_001319655.2:c.1476A>G, NM_001319655.1:c.1476A>T, NM_001319655.1:c.1476A>G, NM_001319652.2:c.1425A>T, NM_001319652.2:c.1425A>G, NM_001319652.1:c.1425A>T, NM_001319652.1:c.1425A>G, NM_001319653.2:c.1542A>T, NM_001319653.2:c.1542A>G, NM_001319653.1:c.1542A>T, NM_001319653.1:c.1542A>G, NM_001003712.2:c.1425A>T, NM_001003712.2:c.1425A>G, NM_001003712.1:c.1425A>T, NM_001003712.1:c.1425A>G, XM_047428248.1:c.1590A>T, XM_047428248.1:c.1590A>G, XM_047428246.1:c.1659A>T, XM_047428246.1:c.1659A>G, XM_047428254.1:c.1425A>T, XM_047428254.1:c.1425A>G, XM_047428249.1:c.1590A>T, XM_047428249.1:c.1590A>G, XM_047428250.1:c.1551A>T, XM_047428250.1:c.1551A>G, XM_047428247.1:c.1611A>T, XM_047428247.1:c.1611A>G, XM_047428251.1:c.1551A>T, XM_047428251.1:c.1551A>G, XM_047428252.1:c.1512A>T, XM_047428252.1:c.1512A>G, XM_047428253.1:c.1503A>T, XM_047428253.1:c.1503A>G, XM_047428255.1:c.1425A>T, XM_047428255.1:c.1425A>G

                    10.

                    rs1476048244 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:76397830 (GRCh38)
                      12:76791610 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:76397829:T:C
                      Gene:
                      OSBPL8 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.76397830T>C, NC_000012.11:g.76791610T>C, XM_005268621.6:c.536A>G, XM_005268621.5:c.536A>G, XM_005268621.4:c.536A>G, XM_005268621.3:c.536A>G, XM_005268621.2:c.536A>G, XM_005268621.1:c.536A>G, NM_020841.5:c.536A>G, NM_020841.4:c.536A>G, XM_011537857.4:c.575A>G, XM_011537857.3:c.575A>G, XM_011537857.2:c.575A>G, XM_011537857.1:c.575A>G, XM_011537856.4:c.575A>G, XM_011537856.3:c.575A>G, XM_011537856.2:c.575A>G, XM_011537856.1:c.575A>G, XM_017018768.3:c.605A>G, XM_017018768.2:c.605A>G, XM_017018768.1:c.605A>G, XM_017018769.3:c.527A>G, XM_017018769.2:c.527A>G, XM_017018769.1:c.527A>G, NM_001319655.2:c.461A>G, NM_001319655.1:c.461A>G, NM_001319652.2:c.410A>G, NM_001319652.1:c.410A>G, NM_001319653.2:c.527A>G, NM_001319653.1:c.527A>G, NM_001003712.2:c.410A>G, NM_001003712.1:c.410A>G, XM_047428248.1:c.575A>G, XM_047428246.1:c.644A>G, XM_047428254.1:c.410A>G, XM_047428249.1:c.575A>G, XM_047428250.1:c.536A>G, XM_047428247.1:c.596A>G, XM_047428251.1:c.536A>G, XM_047428252.1:c.497A>G, XM_047428253.1:c.488A>G, XM_047428255.1:c.410A>G, XP_005268678.1:p.Tyr179Cys, NP_065892.1:p.Tyr179Cys, XP_011536159.1:p.Tyr192Cys, XP_011536158.1:p.Tyr192Cys, XP_016874257.1:p.Tyr202Cys, XP_016874258.1:p.Tyr176Cys, NP_001306584.1:p.Tyr154Cys, NP_001306581.1:p.Tyr137Cys, NP_001306582.1:p.Tyr176Cys, NP_001003712.1:p.Tyr137Cys, XP_047284204.1:p.Tyr192Cys, XP_047284202.1:p.Tyr215Cys, XP_047284210.1:p.Tyr137Cys, XP_047284205.1:p.Tyr192Cys, XP_047284206.1:p.Tyr179Cys, XP_047284203.1:p.Tyr199Cys, XP_047284207.1:p.Tyr179Cys, XP_047284208.1:p.Tyr166Cys, XP_047284209.1:p.Tyr163Cys, XP_047284211.1:p.Tyr137Cys

                      11.

                      rs1473621114 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        12:76371469 (GRCh38)
                        12:76765249 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:76371468:T:C
                        Gene:
                        OSBPL8 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000012.12:g.76371469T>C, NC_000012.11:g.76765249T>C, XM_005268621.6:c.2033A>G, XM_005268621.5:c.2033A>G, XM_005268621.4:c.2033A>G, XM_005268621.3:c.2033A>G, XM_005268621.2:c.2033A>G, XM_005268621.1:c.2033A>G, NM_020841.5:c.2033A>G, NM_020841.4:c.2033A>G, XM_011537857.4:c.2072A>G, XM_011537857.3:c.2072A>G, XM_011537857.2:c.2072A>G, XM_011537857.1:c.2072A>G, XM_011537856.4:c.2072A>G, XM_011537856.3:c.2072A>G, XM_011537856.2:c.2072A>G, XM_011537856.1:c.2072A>G, XM_017018768.3:c.2102A>G, XM_017018768.2:c.2102A>G, XM_017018768.1:c.2102A>G, XM_017018769.3:c.2024A>G, XM_017018769.2:c.2024A>G, XM_017018769.1:c.2024A>G, NM_001319655.2:c.1958A>G, NM_001319655.1:c.1958A>G, NM_001319652.2:c.1907A>G, NM_001319652.1:c.1907A>G, NM_001319653.2:c.2024A>G, NM_001319653.1:c.2024A>G, NM_001003712.2:c.1907A>G, NM_001003712.1:c.1907A>G, XM_047428248.1:c.2072A>G, XM_047428246.1:c.2141A>G, XM_047428254.1:c.1907A>G, XM_047428249.1:c.2072A>G, XM_047428250.1:c.2033A>G, XM_047428247.1:c.2093A>G, XM_047428251.1:c.2033A>G, XM_047428252.1:c.1994A>G, XM_047428253.1:c.1985A>G, XM_047428255.1:c.1907A>G, XP_005268678.1:p.Gln678Arg, NP_065892.1:p.Gln678Arg, XP_011536159.1:p.Gln691Arg, XP_011536158.1:p.Gln691Arg, XP_016874257.1:p.Gln701Arg, XP_016874258.1:p.Gln675Arg, NP_001306584.1:p.Gln653Arg, NP_001306581.1:p.Gln636Arg, NP_001306582.1:p.Gln675Arg, NP_001003712.1:p.Gln636Arg, XP_047284204.1:p.Gln691Arg, XP_047284202.1:p.Gln714Arg, XP_047284210.1:p.Gln636Arg, XP_047284205.1:p.Gln691Arg, XP_047284206.1:p.Gln678Arg, XP_047284203.1:p.Gln698Arg, XP_047284207.1:p.Gln678Arg, XP_047284208.1:p.Gln665Arg, XP_047284209.1:p.Gln662Arg, XP_047284211.1:p.Gln636Arg

                        12.

                        rs1473511739 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          12:76375294 (GRCh38)
                          12:76769074 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:76375293:T:C
                          Gene:
                          OSBPL8 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000012.12:g.76375294T>C, NC_000012.11:g.76769074T>C, XM_005268621.6:c.1806A>G, XM_005268621.5:c.1806A>G, XM_005268621.4:c.1806A>G, XM_005268621.3:c.1806A>G, XM_005268621.2:c.1806A>G, XM_005268621.1:c.1806A>G, NM_020841.5:c.1806A>G, NM_020841.4:c.1806A>G, XM_011537857.4:c.1845A>G, XM_011537857.3:c.1845A>G, XM_011537857.2:c.1845A>G, XM_011537857.1:c.1845A>G, XM_011537856.4:c.1845A>G, XM_011537856.3:c.1845A>G, XM_011537856.2:c.1845A>G, XM_011537856.1:c.1845A>G, XM_017018768.3:c.1875A>G, XM_017018768.2:c.1875A>G, XM_017018768.1:c.1875A>G, XM_017018769.3:c.1797A>G, XM_017018769.2:c.1797A>G, XM_017018769.1:c.1797A>G, NM_001319655.2:c.1731A>G, NM_001319655.1:c.1731A>G, NM_001319652.2:c.1680A>G, NM_001319652.1:c.1680A>G, NM_001319653.2:c.1797A>G, NM_001319653.1:c.1797A>G, NM_001003712.2:c.1680A>G, NM_001003712.1:c.1680A>G, XM_047428248.1:c.1845A>G, XM_047428246.1:c.1914A>G, XM_047428254.1:c.1680A>G, XM_047428249.1:c.1845A>G, XM_047428250.1:c.1806A>G, XM_047428247.1:c.1866A>G, XM_047428251.1:c.1806A>G, XM_047428252.1:c.1767A>G, XM_047428253.1:c.1758A>G, XM_047428255.1:c.1680A>G

                          13.

                          rs1471977915 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            12:76450945 (GRCh38)
                            12:76844725 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:76450944:T:A
                            Gene:
                            OSBPL8 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000012.12:g.76450945T>A, NC_000012.11:g.76844725T>A, XM_005268621.6:c.123A>T, XM_005268621.5:c.123A>T, XM_005268621.4:c.123A>T, XM_005268621.3:c.123A>T, XM_005268621.2:c.123A>T, XM_005268621.1:c.123A>T, NM_020841.5:c.123A>T, NM_020841.4:c.123A>T, XM_011537857.4:c.162A>T, XM_011537857.3:c.162A>T, XM_011537857.2:c.162A>T, XM_011537857.1:c.162A>T, XM_011537856.4:c.162A>T, XM_011537856.3:c.162A>T, XM_011537856.2:c.162A>T, XM_011537856.1:c.162A>T, XM_017018768.3:c.192A>T, XM_017018768.2:c.192A>T, XM_017018768.1:c.192A>T, XM_017018769.3:c.114A>T, XM_017018769.2:c.114A>T, XM_017018769.1:c.114A>T, NM_001319652.2:c.-4A>T, NM_001319652.1:c.-4A>T, NM_001319653.2:c.114A>T, NM_001319653.1:c.114A>T, NM_001003712.2:c.-4A>T, NM_001003712.1:c.-4A>T, XM_047428248.1:c.162A>T, XM_047428246.1:c.231A>T, XM_047428254.1:c.-4A>T, XM_047428249.1:c.162A>T, XM_047428250.1:c.123A>T, XM_047428247.1:c.183A>T, XM_047428251.1:c.123A>T, XM_047428252.1:c.84A>T, XM_047428253.1:c.75A>T, XM_047428255.1:c.-4A>T

                            14.

                            rs1471880115 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:76384266 (GRCh38)
                              12:76778046 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:76384265:A:G
                              Gene:
                              OSBPL8 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.76384266A>G, NC_000012.11:g.76778046A>G, XM_005268621.6:c.1618T>C, XM_005268621.5:c.1618T>C, XM_005268621.4:c.1618T>C, XM_005268621.3:c.1618T>C, XM_005268621.2:c.1618T>C, XM_005268621.1:c.1618T>C, NM_020841.5:c.1618T>C, NM_020841.4:c.1618T>C, XM_011537857.4:c.1657T>C, XM_011537857.3:c.1657T>C, XM_011537857.2:c.1657T>C, XM_011537857.1:c.1657T>C, XM_011537856.4:c.1657T>C, XM_011537856.3:c.1657T>C, XM_011537856.2:c.1657T>C, XM_011537856.1:c.1657T>C, XM_017018768.3:c.1687T>C, XM_017018768.2:c.1687T>C, XM_017018768.1:c.1687T>C, XM_017018769.3:c.1609T>C, XM_017018769.2:c.1609T>C, XM_017018769.1:c.1609T>C, NM_001319655.2:c.1543T>C, NM_001319655.1:c.1543T>C, NM_001319652.2:c.1492T>C, NM_001319652.1:c.1492T>C, NM_001319653.2:c.1609T>C, NM_001319653.1:c.1609T>C, NM_001003712.2:c.1492T>C, NM_001003712.1:c.1492T>C, XM_047428248.1:c.1657T>C, XM_047428246.1:c.1726T>C, XM_047428254.1:c.1492T>C, XM_047428249.1:c.1657T>C, XM_047428250.1:c.1618T>C, XM_047428247.1:c.1678T>C, XM_047428251.1:c.1618T>C, XM_047428252.1:c.1579T>C, XM_047428253.1:c.1570T>C, XM_047428255.1:c.1492T>C, XP_005268678.1:p.Ser540Pro, NP_065892.1:p.Ser540Pro, XP_011536159.1:p.Ser553Pro, XP_011536158.1:p.Ser553Pro, XP_016874257.1:p.Ser563Pro, XP_016874258.1:p.Ser537Pro, NP_001306584.1:p.Ser515Pro, NP_001306581.1:p.Ser498Pro, NP_001306582.1:p.Ser537Pro, NP_001003712.1:p.Ser498Pro, XP_047284204.1:p.Ser553Pro, XP_047284202.1:p.Ser576Pro, XP_047284210.1:p.Ser498Pro, XP_047284205.1:p.Ser553Pro, XP_047284206.1:p.Ser540Pro, XP_047284203.1:p.Ser560Pro, XP_047284207.1:p.Ser540Pro, XP_047284208.1:p.Ser527Pro, XP_047284209.1:p.Ser524Pro, XP_047284211.1:p.Ser498Pro

                              15.

                              rs1471689098 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:76373368 (GRCh38)
                                12:76767148 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:76373367:G:A
                                Gene:
                                OSBPL8 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_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_000012.12:g.76373368G>A, NC_000012.11:g.76767148G>A, XM_005268621.6:c.1893C>T, XM_005268621.5:c.1893C>T, XM_005268621.4:c.1893C>T, XM_005268621.3:c.1893C>T, XM_005268621.2:c.1893C>T, XM_005268621.1:c.1893C>T, NM_020841.5:c.1893C>T, NM_020841.4:c.1893C>T, XM_011537857.4:c.1932C>T, XM_011537857.3:c.1932C>T, XM_011537857.2:c.1932C>T, XM_011537857.1:c.1932C>T, XM_011537856.4:c.1932C>T, XM_011537856.3:c.1932C>T, XM_011537856.2:c.1932C>T, XM_011537856.1:c.1932C>T, XM_017018768.3:c.1962C>T, XM_017018768.2:c.1962C>T, XM_017018768.1:c.1962C>T, XM_017018769.3:c.1884C>T, XM_017018769.2:c.1884C>T, XM_017018769.1:c.1884C>T, NM_001319655.2:c.1818C>T, NM_001319655.1:c.1818C>T, NM_001319652.2:c.1767C>T, NM_001319652.1:c.1767C>T, NM_001319653.2:c.1884C>T, NM_001319653.1:c.1884C>T, NM_001003712.2:c.1767C>T, NM_001003712.1:c.1767C>T, XM_047428248.1:c.1932C>T, XM_047428246.1:c.2001C>T, XM_047428254.1:c.1767C>T, XM_047428249.1:c.1932C>T, XM_047428250.1:c.1893C>T, XM_047428247.1:c.1953C>T, XM_047428251.1:c.1893C>T, XM_047428252.1:c.1854C>T, XM_047428253.1:c.1845C>T, XM_047428255.1:c.1767C>T

                                16.

                                rs1468005013 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:76378503 (GRCh38)
                                  12:76772283 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:76378502:A:G
                                  Gene:
                                  OSBPL8 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.76378503A>G, NC_000012.11:g.76772283A>G, XM_005268621.6:c.1678T>C, XM_005268621.5:c.1678T>C, XM_005268621.4:c.1678T>C, XM_005268621.3:c.1678T>C, XM_005268621.2:c.1678T>C, XM_005268621.1:c.1678T>C, NM_020841.5:c.1678T>C, NM_020841.4:c.1678T>C, XM_011537857.4:c.1717T>C, XM_011537857.3:c.1717T>C, XM_011537857.2:c.1717T>C, XM_011537857.1:c.1717T>C, XM_011537856.4:c.1717T>C, XM_011537856.3:c.1717T>C, XM_011537856.2:c.1717T>C, XM_011537856.1:c.1717T>C, XM_017018768.3:c.1747T>C, XM_017018768.2:c.1747T>C, XM_017018768.1:c.1747T>C, XM_017018769.3:c.1669T>C, XM_017018769.2:c.1669T>C, XM_017018769.1:c.1669T>C, NM_001319655.2:c.1603T>C, NM_001319655.1:c.1603T>C, NM_001319652.2:c.1552T>C, NM_001319652.1:c.1552T>C, NM_001319653.2:c.1669T>C, NM_001319653.1:c.1669T>C, NM_001003712.2:c.1552T>C, NM_001003712.1:c.1552T>C, XM_047428248.1:c.1717T>C, XM_047428246.1:c.1786T>C, XM_047428254.1:c.1552T>C, XM_047428249.1:c.1717T>C, XM_047428250.1:c.1678T>C, XM_047428247.1:c.1738T>C, XM_047428251.1:c.1678T>C, XM_047428252.1:c.1639T>C, XM_047428253.1:c.1630T>C, XM_047428255.1:c.1552T>C

                                  17.

                                  rs1465417949 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:76369759 (GRCh38)
                                    12:76763539 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:76369758:C:T
                                    Gene:
                                    OSBPL8 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000111/1 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.76369759C>T, NC_000012.11:g.76763539C>T, XM_005268621.6:c.2118G>A, XM_005268621.5:c.2118G>A, XM_005268621.4:c.2118G>A, XM_005268621.3:c.2118G>A, XM_005268621.2:c.2118G>A, XM_005268621.1:c.2118G>A, NM_020841.5:c.2118G>A, NM_020841.4:c.2118G>A, XM_011537857.4:c.2157G>A, XM_011537857.3:c.2157G>A, XM_011537857.2:c.2157G>A, XM_011537857.1:c.2157G>A, XM_011537856.4:c.2157G>A, XM_011537856.3:c.2157G>A, XM_011537856.2:c.2157G>A, XM_011537856.1:c.2157G>A, XM_017018768.3:c.2187G>A, XM_017018768.2:c.2187G>A, XM_017018768.1:c.2187G>A, XM_017018769.3:c.2109G>A, XM_017018769.2:c.2109G>A, XM_017018769.1:c.2109G>A, NM_001319655.2:c.2043G>A, NM_001319655.1:c.2043G>A, NM_001319652.2:c.1992G>A, NM_001319652.1:c.1992G>A, NM_001319653.2:c.2109G>A, NM_001319653.1:c.2109G>A, NM_001003712.2:c.1992G>A, NM_001003712.1:c.1992G>A, XM_047428248.1:c.2157G>A, XM_047428246.1:c.2226G>A, XM_047428254.1:c.1992G>A, XM_047428249.1:c.2157G>A, XM_047428250.1:c.2118G>A, XM_047428247.1:c.2178G>A, XM_047428251.1:c.2118G>A, XM_047428252.1:c.2079G>A, XM_047428253.1:c.2070G>A, XM_047428255.1:c.1992G>A

                                    18.

                                    rs1463176591 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      12:76373348 (GRCh38)
                                      12:76767128 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:76373347:T:C
                                      Gene:
                                      OSBPL8 (Varview)
                                      Functional Consequence:
                                      coding_sequence_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_000012.12:g.76373348T>C, NC_000012.11:g.76767128T>C, XM_005268621.6:c.1913A>G, XM_005268621.5:c.1913A>G, XM_005268621.4:c.1913A>G, XM_005268621.3:c.1913A>G, XM_005268621.2:c.1913A>G, XM_005268621.1:c.1913A>G, NM_020841.5:c.1913A>G, NM_020841.4:c.1913A>G, XM_011537857.4:c.1952A>G, XM_011537857.3:c.1952A>G, XM_011537857.2:c.1952A>G, XM_011537857.1:c.1952A>G, XM_011537856.4:c.1952A>G, XM_011537856.3:c.1952A>G, XM_011537856.2:c.1952A>G, XM_011537856.1:c.1952A>G, XM_017018768.3:c.1982A>G, XM_017018768.2:c.1982A>G, XM_017018768.1:c.1982A>G, XM_017018769.3:c.1904A>G, XM_017018769.2:c.1904A>G, XM_017018769.1:c.1904A>G, NM_001319655.2:c.1838A>G, NM_001319655.1:c.1838A>G, NM_001319652.2:c.1787A>G, NM_001319652.1:c.1787A>G, NM_001319653.2:c.1904A>G, NM_001319653.1:c.1904A>G, NM_001003712.2:c.1787A>G, NM_001003712.1:c.1787A>G, XM_047428248.1:c.1952A>G, XM_047428246.1:c.2021A>G, XM_047428254.1:c.1787A>G, XM_047428249.1:c.1952A>G, XM_047428250.1:c.1913A>G, XM_047428247.1:c.1973A>G, XM_047428251.1:c.1913A>G, XM_047428252.1:c.1874A>G, XM_047428253.1:c.1865A>G, XM_047428255.1:c.1787A>G, XP_005268678.1:p.His638Arg, NP_065892.1:p.His638Arg, XP_011536159.1:p.His651Arg, XP_011536158.1:p.His651Arg, XP_016874257.1:p.His661Arg, XP_016874258.1:p.His635Arg, NP_001306584.1:p.His613Arg, NP_001306581.1:p.His596Arg, NP_001306582.1:p.His635Arg, NP_001003712.1:p.His596Arg, XP_047284204.1:p.His651Arg, XP_047284202.1:p.His674Arg, XP_047284210.1:p.His596Arg, XP_047284205.1:p.His651Arg, XP_047284206.1:p.His638Arg, XP_047284203.1:p.His658Arg, XP_047284207.1:p.His638Arg, XP_047284208.1:p.His625Arg, XP_047284209.1:p.His622Arg, XP_047284211.1:p.His596Arg

                                      19.

                                      rs1463134545 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        12:76369810 (GRCh38)
                                        12:76763590 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:76369809:C:G
                                        Gene:
                                        OSBPL8 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_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_000012.12:g.76369810C>G, NC_000012.11:g.76763590C>G, XM_005268621.6:c.2067G>C, XM_005268621.5:c.2067G>C, XM_005268621.4:c.2067G>C, XM_005268621.3:c.2067G>C, XM_005268621.2:c.2067G>C, XM_005268621.1:c.2067G>C, NM_020841.5:c.2067G>C, NM_020841.4:c.2067G>C, XM_011537857.4:c.2106G>C, XM_011537857.3:c.2106G>C, XM_011537857.2:c.2106G>C, XM_011537857.1:c.2106G>C, XM_011537856.4:c.2106G>C, XM_011537856.3:c.2106G>C, XM_011537856.2:c.2106G>C, XM_011537856.1:c.2106G>C, XM_017018768.3:c.2136G>C, XM_017018768.2:c.2136G>C, XM_017018768.1:c.2136G>C, XM_017018769.3:c.2058G>C, XM_017018769.2:c.2058G>C, XM_017018769.1:c.2058G>C, NM_001319655.2:c.1992G>C, NM_001319655.1:c.1992G>C, NM_001319652.2:c.1941G>C, NM_001319652.1:c.1941G>C, NM_001319653.2:c.2058G>C, NM_001319653.1:c.2058G>C, NM_001003712.2:c.1941G>C, NM_001003712.1:c.1941G>C, XM_047428248.1:c.2106G>C, XM_047428246.1:c.2175G>C, XM_047428254.1:c.1941G>C, XM_047428249.1:c.2106G>C, XM_047428250.1:c.2067G>C, XM_047428247.1:c.2127G>C, XM_047428251.1:c.2067G>C, XM_047428252.1:c.2028G>C, XM_047428253.1:c.2019G>C, XM_047428255.1:c.1941G>C

                                        20.

                                        rs1462359826 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          12:76392645 (GRCh38)
                                          12:76786425 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:76392644:T:C
                                          Gene:
                                          OSBPL8 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.76392645T>C, NC_000012.11:g.76786425T>C, XM_005268621.6:c.865A>G, XM_005268621.5:c.865A>G, XM_005268621.4:c.865A>G, XM_005268621.3:c.865A>G, XM_005268621.2:c.865A>G, XM_005268621.1:c.865A>G, NM_020841.5:c.865A>G, NM_020841.4:c.865A>G, XM_011537857.4:c.904A>G, XM_011537857.3:c.904A>G, XM_011537857.2:c.904A>G, XM_011537857.1:c.904A>G, XM_011537856.4:c.904A>G, XM_011537856.3:c.904A>G, XM_011537856.2:c.904A>G, XM_011537856.1:c.904A>G, XM_017018768.3:c.934A>G, XM_017018768.2:c.934A>G, XM_017018768.1:c.934A>G, XM_017018769.3:c.856A>G, XM_017018769.2:c.856A>G, XM_017018769.1:c.856A>G, NM_001319655.2:c.790A>G, NM_001319655.1:c.790A>G, NM_001319652.2:c.739A>G, NM_001319652.1:c.739A>G, NM_001319653.2:c.856A>G, NM_001319653.1:c.856A>G, NM_001003712.2:c.739A>G, NM_001003712.1:c.739A>G, XM_047428248.1:c.904A>G, XM_047428246.1:c.973A>G, XM_047428254.1:c.739A>G, XM_047428249.1:c.904A>G, XM_047428250.1:c.865A>G, XM_047428247.1:c.925A>G, XM_047428251.1:c.865A>G, XM_047428252.1:c.826A>G, XM_047428253.1:c.817A>G, XM_047428255.1:c.739A>G, XP_005268678.1:p.Ser289Gly, NP_065892.1:p.Ser289Gly, XP_011536159.1:p.Ser302Gly, XP_011536158.1:p.Ser302Gly, XP_016874257.1:p.Ser312Gly, XP_016874258.1:p.Ser286Gly, NP_001306584.1:p.Ser264Gly, NP_001306581.1:p.Ser247Gly, NP_001306582.1:p.Ser286Gly, NP_001003712.1:p.Ser247Gly, XP_047284204.1:p.Ser302Gly, XP_047284202.1:p.Ser325Gly, XP_047284210.1:p.Ser247Gly, XP_047284205.1:p.Ser302Gly, XP_047284206.1:p.Ser289Gly, XP_047284203.1:p.Ser309Gly, XP_047284207.1:p.Ser289Gly, XP_047284208.1:p.Ser276Gly, XP_047284209.1:p.Ser273Gly, XP_047284211.1:p.Ser247Gly

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