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Items: 1 to 20 of 383

1.

rs1490670567 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    11:73296714 (GRCh38)
    11:73007759 (GRCh37)
    Canonical SPDI:
    NC_000011.10:73296713:C:A,NC_000011.10:73296713:C:G
    Gene:
    P2RY6 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000015/4 (TOPMED)
    G=0.000021/3 (GnomAD)
    HGVS:
    NC_000011.10:g.73296714C>A, NC_000011.10:g.73296714C>G, NC_000011.9:g.73007759C>A, NC_000011.9:g.73007759C>G, XM_006718571.4:c.196C>A, XM_006718571.4:c.196C>G, XM_006718571.3:c.196C>A, XM_006718571.3:c.196C>G, XM_006718571.2:c.196C>A, XM_006718571.2:c.196C>G, XM_006718571.1:c.196C>A, XM_006718571.1:c.196C>G, XM_005274022.4:c.196C>A, XM_005274022.4:c.196C>G, XM_005274022.3:c.196C>A, XM_005274022.3:c.196C>G, XM_005274022.2:c.196C>A, XM_005274022.2:c.196C>G, XM_005274022.1:c.196C>A, XM_005274022.1:c.196C>G, XM_011545076.3:c.406C>A, XM_011545076.3:c.406C>G, XM_011545076.2:c.406C>A, XM_011545076.2:c.406C>G, XM_011545076.1:c.406C>A, XM_011545076.1:c.406C>G, NM_176796.3:c.196C>A, NM_176796.3:c.196C>G, NM_176796.2:c.196C>A, NM_176796.2:c.196C>G, NM_004154.3:c.196C>A, NM_004154.3:c.196C>G, NM_176797.3:c.196C>A, NM_176797.3:c.196C>G, NM_176797.2:c.196C>A, NM_176797.2:c.196C>G, XM_011545079.3:c.196C>A, XM_011545079.3:c.196C>G, XM_011545079.2:c.196C>A, XM_011545079.2:c.196C>G, XM_011545079.1:c.196C>A, XM_011545079.1:c.196C>G, NM_176798.2:c.196C>A, NM_176798.2:c.196C>G, NM_001277205.2:c.196C>A, NM_001277205.2:c.196C>G, NM_001277205.1:c.196C>A, NM_001277205.1:c.196C>G, NM_001277206.2:c.196C>A, NM_001277206.2:c.196C>G, NM_001277206.1:c.196C>A, NM_001277206.1:c.196C>G, NM_001277207.2:c.196C>A, NM_001277207.2:c.196C>G, NM_001277207.1:c.196C>A, NM_001277207.1:c.196C>G, NM_004154.2:c.196C>A, NM_004154.2:c.196C>G, NM_001277204.2:c.196C>A, NM_001277204.2:c.196C>G, NM_001277204.1:c.196C>A, NM_001277204.1:c.196C>G, XM_047427038.1:c.196C>A, XM_047427038.1:c.196C>G, XM_047427036.1:c.373C>A, XM_047427036.1:c.373C>G, XM_047427037.1:c.196C>A, XM_047427037.1:c.196C>G, NM_001277208.1:c.499C>A, NM_001277208.1:c.499C>G, XM_047427039.1:c.196C>A, XM_047427039.1:c.196C>G, NM_004154.1:c.196C>A, NM_004154.1:c.196C>G, XP_006718634.1:p.Leu66Ile, XP_006718634.1:p.Leu66Val, XP_005274079.1:p.Leu66Ile, XP_005274079.1:p.Leu66Val, XP_011543378.1:p.Leu136Ile, XP_011543378.1:p.Leu136Val, NP_789766.1:p.Leu66Ile, NP_789766.1:p.Leu66Val, NP_789767.1:p.Leu66Ile, NP_789767.1:p.Leu66Val, XP_011543381.1:p.Leu66Ile, XP_011543381.1:p.Leu66Val, NP_789768.1:p.Leu66Ile, NP_789768.1:p.Leu66Val, NP_001264134.1:p.Leu66Ile, NP_001264134.1:p.Leu66Val, NP_001264135.1:p.Leu66Ile, NP_001264135.1:p.Leu66Val, NP_001264136.1:p.Leu66Ile, NP_001264136.1:p.Leu66Val, NP_001264133.1:p.Leu66Ile, NP_001264133.1:p.Leu66Val, XP_047282994.1:p.Leu66Ile, XP_047282994.1:p.Leu66Val, XP_047282992.1:p.Leu125Ile, XP_047282992.1:p.Leu125Val, XP_047282993.1:p.Leu66Ile, XP_047282993.1:p.Leu66Val, NP_001264137.1:p.Leu167Ile, NP_001264137.1:p.Leu167Val, XP_047282995.1:p.Leu66Ile, XP_047282995.1:p.Leu66Val

    2.

    rs1490625179 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      11:73297340 (GRCh38)
      11:73008385 (GRCh37)
      Canonical SPDI:
      NC_000011.10:73297339:T:G
      Gene:
      P2RY6 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000028/7 (GnomAD_exomes)
      G=0.000071/10 (GnomAD)
      G=0.000072/19 (TOPMED)
      HGVS:
      NC_000011.10:g.73297340T>G, NC_000011.9:g.73008385T>G, XM_006718571.4:c.822T>G, XM_006718571.3:c.822T>G, XM_006718571.2:c.822T>G, XM_006718571.1:c.822T>G, XM_005274022.4:c.822T>G, XM_005274022.3:c.822T>G, XM_005274022.2:c.822T>G, XM_005274022.1:c.822T>G, XM_011545076.3:c.1032T>G, XM_011545076.2:c.1032T>G, XM_011545076.1:c.1032T>G, NM_176796.3:c.822T>G, NM_176796.2:c.822T>G, NM_004154.3:c.822T>G, NM_176797.3:c.822T>G, NM_176797.2:c.822T>G, XM_011545079.3:c.822T>G, XM_011545079.2:c.822T>G, XM_011545079.1:c.822T>G, NM_176798.2:c.822T>G, NM_001277205.2:c.822T>G, NM_001277205.1:c.822T>G, NM_001277206.2:c.822T>G, NM_001277206.1:c.822T>G, NM_001277207.2:c.822T>G, NM_001277207.1:c.822T>G, NM_004154.2:c.822T>G, NM_001277204.2:c.822T>G, NM_001277204.1:c.822T>G, XM_047427038.1:c.822T>G, XM_047427036.1:c.999T>G, XM_047427037.1:c.822T>G, NM_001277208.1:c.1125T>G, XM_047427039.1:c.822T>G, NM_004154.1:c.822T>G

      3.

      rs1486676669 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        11:73297104 (GRCh38)
        11:73008149 (GRCh37)
        Canonical SPDI:
        NC_000011.10:73297103:C:G,NC_000011.10:73297103:C:T
        Gene:
        P2RY6 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.73297104C>G, NC_000011.10:g.73297104C>T, NC_000011.9:g.73008149C>G, NC_000011.9:g.73008149C>T, XM_006718571.4:c.586C>G, XM_006718571.4:c.586C>T, XM_006718571.3:c.586C>G, XM_006718571.3:c.586C>T, XM_006718571.2:c.586C>G, XM_006718571.2:c.586C>T, XM_006718571.1:c.586C>G, XM_006718571.1:c.586C>T, XM_005274022.4:c.586C>G, XM_005274022.4:c.586C>T, XM_005274022.3:c.586C>G, XM_005274022.3:c.586C>T, XM_005274022.2:c.586C>G, XM_005274022.2:c.586C>T, XM_005274022.1:c.586C>G, XM_005274022.1:c.586C>T, XM_011545076.3:c.796C>G, XM_011545076.3:c.796C>T, XM_011545076.2:c.796C>G, XM_011545076.2:c.796C>T, XM_011545076.1:c.796C>G, XM_011545076.1:c.796C>T, NM_176796.3:c.586C>G, NM_176796.3:c.586C>T, NM_176796.2:c.586C>G, NM_176796.2:c.586C>T, NM_004154.3:c.586C>G, NM_004154.3:c.586C>T, NM_176797.3:c.586C>G, NM_176797.3:c.586C>T, NM_176797.2:c.586C>G, NM_176797.2:c.586C>T, XM_011545079.3:c.586C>G, XM_011545079.3:c.586C>T, XM_011545079.2:c.586C>G, XM_011545079.2:c.586C>T, XM_011545079.1:c.586C>G, XM_011545079.1:c.586C>T, NM_176798.2:c.586C>G, NM_176798.2:c.586C>T, NM_001277205.2:c.586C>G, NM_001277205.2:c.586C>T, NM_001277205.1:c.586C>G, NM_001277205.1:c.586C>T, NM_001277206.2:c.586C>G, NM_001277206.2:c.586C>T, NM_001277206.1:c.586C>G, NM_001277206.1:c.586C>T, NM_001277207.2:c.586C>G, NM_001277207.2:c.586C>T, NM_001277207.1:c.586C>G, NM_001277207.1:c.586C>T, NM_004154.2:c.586C>G, NM_004154.2:c.586C>T, NM_001277204.2:c.586C>G, NM_001277204.2:c.586C>T, NM_001277204.1:c.586C>G, NM_001277204.1:c.586C>T, XM_047427038.1:c.586C>G, XM_047427038.1:c.586C>T, XM_047427036.1:c.763C>G, XM_047427036.1:c.763C>T, XM_047427037.1:c.586C>G, XM_047427037.1:c.586C>T, NM_001277208.1:c.889C>G, NM_001277208.1:c.889C>T, XM_047427039.1:c.586C>G, XM_047427039.1:c.586C>T, NM_004154.1:c.586C>G, NM_004154.1:c.586C>T, XP_006718634.1:p.Leu196Val, XP_006718634.1:p.Leu196Phe, XP_005274079.1:p.Leu196Val, XP_005274079.1:p.Leu196Phe, XP_011543378.1:p.Leu266Val, XP_011543378.1:p.Leu266Phe, NP_789766.1:p.Leu196Val, NP_789766.1:p.Leu196Phe, NP_789767.1:p.Leu196Val, NP_789767.1:p.Leu196Phe, XP_011543381.1:p.Leu196Val, XP_011543381.1:p.Leu196Phe, NP_789768.1:p.Leu196Val, NP_789768.1:p.Leu196Phe, NP_001264134.1:p.Leu196Val, NP_001264134.1:p.Leu196Phe, NP_001264135.1:p.Leu196Val, NP_001264135.1:p.Leu196Phe, NP_001264136.1:p.Leu196Val, NP_001264136.1:p.Leu196Phe, NP_001264133.1:p.Leu196Val, NP_001264133.1:p.Leu196Phe, XP_047282994.1:p.Leu196Val, XP_047282994.1:p.Leu196Phe, XP_047282992.1:p.Leu255Val, XP_047282992.1:p.Leu255Phe, XP_047282993.1:p.Leu196Val, XP_047282993.1:p.Leu196Phe, NP_001264137.1:p.Leu297Val, NP_001264137.1:p.Leu297Phe, XP_047282995.1:p.Leu196Val, XP_047282995.1:p.Leu196Phe

        4.

        rs1484357534 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          11:73297305 (GRCh38)
          11:73008350 (GRCh37)
          Canonical SPDI:
          NC_000011.10:73297304:C:G
          Gene:
          P2RY6 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.73297305C>G, NC_000011.9:g.73008350C>G, XM_006718571.4:c.787C>G, XM_006718571.3:c.787C>G, XM_006718571.2:c.787C>G, XM_006718571.1:c.787C>G, XM_005274022.4:c.787C>G, XM_005274022.3:c.787C>G, XM_005274022.2:c.787C>G, XM_005274022.1:c.787C>G, XM_011545076.3:c.997C>G, XM_011545076.2:c.997C>G, XM_011545076.1:c.997C>G, NM_176796.3:c.787C>G, NM_176796.2:c.787C>G, NM_004154.3:c.787C>G, NM_176797.3:c.787C>G, NM_176797.2:c.787C>G, XM_011545079.3:c.787C>G, XM_011545079.2:c.787C>G, XM_011545079.1:c.787C>G, NM_176798.2:c.787C>G, NM_001277205.2:c.787C>G, NM_001277205.1:c.787C>G, NM_001277206.2:c.787C>G, NM_001277206.1:c.787C>G, NM_001277207.2:c.787C>G, NM_001277207.1:c.787C>G, NM_004154.2:c.787C>G, NM_001277204.2:c.787C>G, NM_001277204.1:c.787C>G, XM_047427038.1:c.787C>G, XM_047427036.1:c.964C>G, XM_047427037.1:c.787C>G, NM_001277208.1:c.1090C>G, XM_047427039.1:c.787C>G, NM_004154.1:c.787C>G, XP_006718634.1:p.Leu263Val, XP_005274079.1:p.Leu263Val, XP_011543378.1:p.Leu333Val, NP_789766.1:p.Leu263Val, NP_789767.1:p.Leu263Val, XP_011543381.1:p.Leu263Val, NP_789768.1:p.Leu263Val, NP_001264134.1:p.Leu263Val, NP_001264135.1:p.Leu263Val, NP_001264136.1:p.Leu263Val, NP_001264133.1:p.Leu263Val, XP_047282994.1:p.Leu263Val, XP_047282992.1:p.Leu322Val, XP_047282993.1:p.Leu263Val, NP_001264137.1:p.Leu364Val, XP_047282995.1:p.Leu263Val

          5.

          rs1484245683 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:73297463 (GRCh38)
            11:73008508 (GRCh37)
            Canonical SPDI:
            NC_000011.10:73297462:C:T
            Gene:
            P2RY6 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            T=0.000684/2 (KOREAN)
            HGVS:
            NC_000011.10:g.73297463C>T, NC_000011.9:g.73008508C>T, XM_006718571.4:c.945C>T, XM_006718571.3:c.945C>T, XM_006718571.2:c.945C>T, XM_006718571.1:c.945C>T, XM_005274022.4:c.945C>T, XM_005274022.3:c.945C>T, XM_005274022.2:c.945C>T, XM_005274022.1:c.945C>T, XM_011545076.3:c.1155C>T, XM_011545076.2:c.1155C>T, XM_011545076.1:c.1155C>T, NM_176796.3:c.945C>T, NM_176796.2:c.945C>T, NM_004154.3:c.945C>T, NM_176797.3:c.945C>T, NM_176797.2:c.945C>T, XM_011545079.3:c.945C>T, XM_011545079.2:c.945C>T, XM_011545079.1:c.945C>T, NM_176798.2:c.945C>T, NM_001277205.2:c.945C>T, NM_001277205.1:c.945C>T, NM_001277206.2:c.945C>T, NM_001277206.1:c.945C>T, NM_001277207.2:c.945C>T, NM_001277207.1:c.945C>T, NM_004154.2:c.945C>T, NM_001277204.2:c.945C>T, NM_001277204.1:c.945C>T, XM_047427038.1:c.945C>T, XM_047427036.1:c.1122C>T, XM_047427037.1:c.945C>T, NM_001277208.1:c.1248C>T, XM_047427039.1:c.945C>T, NM_004154.1:c.945C>T

            6.

            rs1481579492 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:73296562 (GRCh38)
              11:73007607 (GRCh37)
              Canonical SPDI:
              NC_000011.10:73296561:C:T
              Gene:
              P2RY6 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000011.10:g.73296562C>T, NC_000011.9:g.73007607C>T, XM_006718571.4:c.44C>T, XM_006718571.3:c.44C>T, XM_006718571.2:c.44C>T, XM_006718571.1:c.44C>T, XM_005274022.4:c.44C>T, XM_005274022.3:c.44C>T, XM_005274022.2:c.44C>T, XM_005274022.1:c.44C>T, XM_011545076.3:c.254C>T, XM_011545076.2:c.254C>T, XM_011545076.1:c.254C>T, NM_176796.3:c.44C>T, NM_176796.2:c.44C>T, NM_004154.3:c.44C>T, NM_176797.3:c.44C>T, NM_176797.2:c.44C>T, XM_011545079.3:c.44C>T, XM_011545079.2:c.44C>T, XM_011545079.1:c.44C>T, NM_176798.2:c.44C>T, NM_001277205.2:c.44C>T, NM_001277205.1:c.44C>T, NM_001277206.2:c.44C>T, NM_001277206.1:c.44C>T, NM_001277207.2:c.44C>T, NM_001277207.1:c.44C>T, NM_004154.2:c.44C>T, NM_001277204.2:c.44C>T, NM_001277204.1:c.44C>T, XM_047427038.1:c.44C>T, XM_047427036.1:c.221C>T, XM_047427037.1:c.44C>T, NM_001277208.1:c.347C>T, XM_047427039.1:c.44C>T, NM_004154.1:c.44C>T, XP_006718634.1:p.Pro15Leu, XP_005274079.1:p.Pro15Leu, XP_011543378.1:p.Pro85Leu, NP_789766.1:p.Pro15Leu, NP_789767.1:p.Pro15Leu, XP_011543381.1:p.Pro15Leu, NP_789768.1:p.Pro15Leu, NP_001264134.1:p.Pro15Leu, NP_001264135.1:p.Pro15Leu, NP_001264136.1:p.Pro15Leu, NP_001264133.1:p.Pro15Leu, XP_047282994.1:p.Pro15Leu, XP_047282992.1:p.Pro74Leu, XP_047282993.1:p.Pro15Leu, NP_001264137.1:p.Pro116Leu, XP_047282995.1:p.Pro15Leu

              7.

              rs1480967186 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:73296948 (GRCh38)
                11:73007993 (GRCh37)
                Canonical SPDI:
                NC_000011.10:73296947:G:A
                Gene:
                P2RY6 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                HGVS:
                NC_000011.10:g.73296948G>A, NC_000011.9:g.73007993G>A, XM_006718571.4:c.430G>A, XM_006718571.3:c.430G>A, XM_006718571.2:c.430G>A, XM_006718571.1:c.430G>A, XM_005274022.4:c.430G>A, XM_005274022.3:c.430G>A, XM_005274022.2:c.430G>A, XM_005274022.1:c.430G>A, XM_011545076.3:c.640G>A, XM_011545076.2:c.640G>A, XM_011545076.1:c.640G>A, NM_176796.3:c.430G>A, NM_176796.2:c.430G>A, NM_004154.3:c.430G>A, NM_176797.3:c.430G>A, NM_176797.2:c.430G>A, XM_011545079.3:c.430G>A, XM_011545079.2:c.430G>A, XM_011545079.1:c.430G>A, NM_176798.2:c.430G>A, NM_001277205.2:c.430G>A, NM_001277205.1:c.430G>A, NM_001277206.2:c.430G>A, NM_001277206.1:c.430G>A, NM_001277207.2:c.430G>A, NM_001277207.1:c.430G>A, NM_004154.2:c.430G>A, NM_001277204.2:c.430G>A, NM_001277204.1:c.430G>A, XM_047427038.1:c.430G>A, XM_047427036.1:c.607G>A, XM_047427037.1:c.430G>A, NM_001277208.1:c.733G>A, XM_047427039.1:c.430G>A, NM_004154.1:c.430G>A, XP_006718634.1:p.Ala144Thr, XP_005274079.1:p.Ala144Thr, XP_011543378.1:p.Ala214Thr, NP_789766.1:p.Ala144Thr, NP_789767.1:p.Ala144Thr, XP_011543381.1:p.Ala144Thr, NP_789768.1:p.Ala144Thr, NP_001264134.1:p.Ala144Thr, NP_001264135.1:p.Ala144Thr, NP_001264136.1:p.Ala144Thr, NP_001264133.1:p.Ala144Thr, XP_047282994.1:p.Ala144Thr, XP_047282992.1:p.Ala203Thr, XP_047282993.1:p.Ala144Thr, NP_001264137.1:p.Ala245Thr, XP_047282995.1:p.Ala144Thr

                8.

                rs1472204986 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  11:73296965 (GRCh38)
                  11:73008010 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:73296964:A:G,NC_000011.10:73296964:A:T
                  Gene:
                  P2RY6 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.73296965A>G, NC_000011.10:g.73296965A>T, NC_000011.9:g.73008010A>G, NC_000011.9:g.73008010A>T, XM_006718571.4:c.447A>G, XM_006718571.4:c.447A>T, XM_006718571.3:c.447A>G, XM_006718571.3:c.447A>T, XM_006718571.2:c.447A>G, XM_006718571.2:c.447A>T, XM_006718571.1:c.447A>G, XM_006718571.1:c.447A>T, XM_005274022.4:c.447A>G, XM_005274022.4:c.447A>T, XM_005274022.3:c.447A>G, XM_005274022.3:c.447A>T, XM_005274022.2:c.447A>G, XM_005274022.2:c.447A>T, XM_005274022.1:c.447A>G, XM_005274022.1:c.447A>T, XM_011545076.3:c.657A>G, XM_011545076.3:c.657A>T, XM_011545076.2:c.657A>G, XM_011545076.2:c.657A>T, XM_011545076.1:c.657A>G, XM_011545076.1:c.657A>T, NM_176796.3:c.447A>G, NM_176796.3:c.447A>T, NM_176796.2:c.447A>G, NM_176796.2:c.447A>T, NM_004154.3:c.447A>G, NM_004154.3:c.447A>T, NM_176797.3:c.447A>G, NM_176797.3:c.447A>T, NM_176797.2:c.447A>G, NM_176797.2:c.447A>T, XM_011545079.3:c.447A>G, XM_011545079.3:c.447A>T, XM_011545079.2:c.447A>G, XM_011545079.2:c.447A>T, XM_011545079.1:c.447A>G, XM_011545079.1:c.447A>T, NM_176798.2:c.447A>G, NM_176798.2:c.447A>T, NM_001277205.2:c.447A>G, NM_001277205.2:c.447A>T, NM_001277205.1:c.447A>G, NM_001277205.1:c.447A>T, NM_001277206.2:c.447A>G, NM_001277206.2:c.447A>T, NM_001277206.1:c.447A>G, NM_001277206.1:c.447A>T, NM_001277207.2:c.447A>G, NM_001277207.2:c.447A>T, NM_001277207.1:c.447A>G, NM_001277207.1:c.447A>T, NM_004154.2:c.447A>G, NM_004154.2:c.447A>T, NM_001277204.2:c.447A>G, NM_001277204.2:c.447A>T, NM_001277204.1:c.447A>G, NM_001277204.1:c.447A>T, XM_047427038.1:c.447A>G, XM_047427038.1:c.447A>T, XM_047427036.1:c.624A>G, XM_047427036.1:c.624A>T, XM_047427037.1:c.447A>G, XM_047427037.1:c.447A>T, NM_001277208.1:c.750A>G, NM_001277208.1:c.750A>T, XM_047427039.1:c.447A>G, XM_047427039.1:c.447A>T, NM_004154.1:c.447A>G, NM_004154.1:c.447A>T

                  9.

                  rs1472061790 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    11:73297493 (GRCh38)
                    11:73008538 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:73297492:G:T
                    Gene:
                    P2RY6 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000008/2 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000011.10:g.73297493G>T, NC_000011.9:g.73008538G>T, XM_006718571.4:c.975G>T, XM_006718571.3:c.975G>T, XM_006718571.2:c.975G>T, XM_006718571.1:c.975G>T, XM_005274022.4:c.975G>T, XM_005274022.3:c.975G>T, XM_005274022.2:c.975G>T, XM_005274022.1:c.975G>T, XM_011545076.3:c.1185G>T, XM_011545076.2:c.1185G>T, XM_011545076.1:c.1185G>T, NM_176796.3:c.975G>T, NM_176796.2:c.975G>T, NM_004154.3:c.975G>T, NM_176797.3:c.975G>T, NM_176797.2:c.975G>T, XM_011545079.3:c.975G>T, XM_011545079.2:c.975G>T, XM_011545079.1:c.975G>T, NM_176798.2:c.975G>T, NM_001277205.2:c.975G>T, NM_001277205.1:c.975G>T, NM_001277206.2:c.975G>T, NM_001277206.1:c.975G>T, NM_001277207.2:c.975G>T, NM_001277207.1:c.975G>T, NM_004154.2:c.975G>T, NM_001277204.2:c.975G>T, NM_001277204.1:c.975G>T, XM_047427038.1:c.975G>T, XM_047427036.1:c.1152G>T, XM_047427037.1:c.975G>T, NM_001277208.1:c.1278G>T, XM_047427039.1:c.975G>T, NM_004154.1:c.975G>T, XP_006718634.1:p.Arg325Ser, XP_005274079.1:p.Arg325Ser, XP_011543378.1:p.Arg395Ser, NP_789766.1:p.Arg325Ser, NP_789767.1:p.Arg325Ser, XP_011543381.1:p.Arg325Ser, NP_789768.1:p.Arg325Ser, NP_001264134.1:p.Arg325Ser, NP_001264135.1:p.Arg325Ser, NP_001264136.1:p.Arg325Ser, NP_001264133.1:p.Arg325Ser, XP_047282994.1:p.Arg325Ser, XP_047282992.1:p.Arg384Ser, XP_047282993.1:p.Arg325Ser, NP_001264137.1:p.Arg426Ser, XP_047282995.1:p.Arg325Ser

                    10.

                    rs1463685642 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:73297409 (GRCh38)
                      11:73008454 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:73297408:C:T
                      Gene:
                      P2RY6 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.73297409C>T, NC_000011.9:g.73008454C>T, XM_006718571.4:c.891C>T, XM_006718571.3:c.891C>T, XM_006718571.2:c.891C>T, XM_006718571.1:c.891C>T, XM_005274022.4:c.891C>T, XM_005274022.3:c.891C>T, XM_005274022.2:c.891C>T, XM_005274022.1:c.891C>T, XM_011545076.3:c.1101C>T, XM_011545076.2:c.1101C>T, XM_011545076.1:c.1101C>T, NM_176796.3:c.891C>T, NM_176796.2:c.891C>T, NM_004154.3:c.891C>T, NM_176797.3:c.891C>T, NM_176797.2:c.891C>T, XM_011545079.3:c.891C>T, XM_011545079.2:c.891C>T, XM_011545079.1:c.891C>T, NM_176798.2:c.891C>T, NM_001277205.2:c.891C>T, NM_001277205.1:c.891C>T, NM_001277206.2:c.891C>T, NM_001277206.1:c.891C>T, NM_001277207.2:c.891C>T, NM_001277207.1:c.891C>T, NM_004154.2:c.891C>T, NM_001277204.2:c.891C>T, NM_001277204.1:c.891C>T, XM_047427038.1:c.891C>T, XM_047427036.1:c.1068C>T, XM_047427037.1:c.891C>T, NM_001277208.1:c.1194C>T, XM_047427039.1:c.891C>T, NM_004154.1:c.891C>T

                      11.

                      rs1462406177 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        11:73297403 (GRCh38)
                        11:73008448 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:73297402:G:T
                        Gene:
                        P2RY6 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_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_000011.10:g.73297403G>T, NC_000011.9:g.73008448G>T, XM_006718571.4:c.885G>T, XM_006718571.3:c.885G>T, XM_006718571.2:c.885G>T, XM_006718571.1:c.885G>T, XM_005274022.4:c.885G>T, XM_005274022.3:c.885G>T, XM_005274022.2:c.885G>T, XM_005274022.1:c.885G>T, XM_011545076.3:c.1095G>T, XM_011545076.2:c.1095G>T, XM_011545076.1:c.1095G>T, NM_176796.3:c.885G>T, NM_176796.2:c.885G>T, NM_004154.3:c.885G>T, NM_176797.3:c.885G>T, NM_176797.2:c.885G>T, XM_011545079.3:c.885G>T, XM_011545079.2:c.885G>T, XM_011545079.1:c.885G>T, NM_176798.2:c.885G>T, NM_001277205.2:c.885G>T, NM_001277205.1:c.885G>T, NM_001277206.2:c.885G>T, NM_001277206.1:c.885G>T, NM_001277207.2:c.885G>T, NM_001277207.1:c.885G>T, NM_004154.2:c.885G>T, NM_001277204.2:c.885G>T, NM_001277204.1:c.885G>T, XM_047427038.1:c.885G>T, XM_047427036.1:c.1062G>T, XM_047427037.1:c.885G>T, NM_001277208.1:c.1188G>T, XM_047427039.1:c.885G>T, NM_004154.1:c.885G>T

                        12.

                        rs1454222623 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:73296836 (GRCh38)
                          11:73007881 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:73296835:C:T
                          Gene:
                          P2RY6 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          HGVS:
                          NC_000011.10:g.73296836C>T, NC_000011.9:g.73007881C>T, XM_006718571.4:c.318C>T, XM_006718571.3:c.318C>T, XM_006718571.2:c.318C>T, XM_006718571.1:c.318C>T, XM_005274022.4:c.318C>T, XM_005274022.3:c.318C>T, XM_005274022.2:c.318C>T, XM_005274022.1:c.318C>T, XM_011545076.3:c.528C>T, XM_011545076.2:c.528C>T, XM_011545076.1:c.528C>T, NM_176796.3:c.318C>T, NM_176796.2:c.318C>T, NM_004154.3:c.318C>T, NM_176797.3:c.318C>T, NM_176797.2:c.318C>T, XM_011545079.3:c.318C>T, XM_011545079.2:c.318C>T, XM_011545079.1:c.318C>T, NM_176798.2:c.318C>T, NM_001277205.2:c.318C>T, NM_001277205.1:c.318C>T, NM_001277206.2:c.318C>T, NM_001277206.1:c.318C>T, NM_001277207.2:c.318C>T, NM_001277207.1:c.318C>T, NM_004154.2:c.318C>T, NM_001277204.2:c.318C>T, NM_001277204.1:c.318C>T, XM_047427038.1:c.318C>T, XM_047427036.1:c.495C>T, XM_047427037.1:c.318C>T, NM_001277208.1:c.621C>T, XM_047427039.1:c.318C>T, NM_004154.1:c.318C>T

                          13.

                          rs1449982701 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:73296923 (GRCh38)
                            11:73007968 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:73296922:G:A
                            Gene:
                            P2RY6 (Varview)
                            Functional Consequence:
                            stop_gained,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.73296923G>A, NC_000011.9:g.73007968G>A, XM_006718571.4:c.405G>A, XM_006718571.3:c.405G>A, XM_006718571.2:c.405G>A, XM_006718571.1:c.405G>A, XM_005274022.4:c.405G>A, XM_005274022.3:c.405G>A, XM_005274022.2:c.405G>A, XM_005274022.1:c.405G>A, XM_011545076.3:c.615G>A, XM_011545076.2:c.615G>A, XM_011545076.1:c.615G>A, NM_176796.3:c.405G>A, NM_176796.2:c.405G>A, NM_004154.3:c.405G>A, NM_176797.3:c.405G>A, NM_176797.2:c.405G>A, XM_011545079.3:c.405G>A, XM_011545079.2:c.405G>A, XM_011545079.1:c.405G>A, NM_176798.2:c.405G>A, NM_001277205.2:c.405G>A, NM_001277205.1:c.405G>A, NM_001277206.2:c.405G>A, NM_001277206.1:c.405G>A, NM_001277207.2:c.405G>A, NM_001277207.1:c.405G>A, NM_004154.2:c.405G>A, NM_001277204.2:c.405G>A, NM_001277204.1:c.405G>A, XM_047427038.1:c.405G>A, XM_047427036.1:c.582G>A, XM_047427037.1:c.405G>A, NM_001277208.1:c.708G>A, XM_047427039.1:c.405G>A, NM_004154.1:c.405G>A, XP_006718634.1:p.Trp135Ter, XP_005274079.1:p.Trp135Ter, XP_011543378.1:p.Trp205Ter, NP_789766.1:p.Trp135Ter, NP_789767.1:p.Trp135Ter, XP_011543381.1:p.Trp135Ter, NP_789768.1:p.Trp135Ter, NP_001264134.1:p.Trp135Ter, NP_001264135.1:p.Trp135Ter, NP_001264136.1:p.Trp135Ter, NP_001264133.1:p.Trp135Ter, XP_047282994.1:p.Trp135Ter, XP_047282992.1:p.Trp194Ter, XP_047282993.1:p.Trp135Ter, NP_001264137.1:p.Trp236Ter, XP_047282995.1:p.Trp135Ter

                            14.

                            rs1449690843 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:73297093 (GRCh38)
                              11:73008138 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:73297092:A:G
                              Gene:
                              P2RY6 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000011.10:g.73297093A>G, NC_000011.9:g.73008138A>G, XM_006718571.4:c.575A>G, XM_006718571.3:c.575A>G, XM_006718571.2:c.575A>G, XM_006718571.1:c.575A>G, XM_005274022.4:c.575A>G, XM_005274022.3:c.575A>G, XM_005274022.2:c.575A>G, XM_005274022.1:c.575A>G, XM_011545076.3:c.785A>G, XM_011545076.2:c.785A>G, XM_011545076.1:c.785A>G, NM_176796.3:c.575A>G, NM_176796.2:c.575A>G, NM_004154.3:c.575A>G, NM_176797.3:c.575A>G, NM_176797.2:c.575A>G, XM_011545079.3:c.575A>G, XM_011545079.2:c.575A>G, XM_011545079.1:c.575A>G, NM_176798.2:c.575A>G, NM_001277205.2:c.575A>G, NM_001277205.1:c.575A>G, NM_001277206.2:c.575A>G, NM_001277206.1:c.575A>G, NM_001277207.2:c.575A>G, NM_001277207.1:c.575A>G, NM_004154.2:c.575A>G, NM_001277204.2:c.575A>G, NM_001277204.1:c.575A>G, XM_047427038.1:c.575A>G, XM_047427036.1:c.752A>G, XM_047427037.1:c.575A>G, NM_001277208.1:c.878A>G, XM_047427039.1:c.575A>G, NM_004154.1:c.575A>G, XP_006718634.1:p.Tyr192Cys, XP_005274079.1:p.Tyr192Cys, XP_011543378.1:p.Tyr262Cys, NP_789766.1:p.Tyr192Cys, NP_789767.1:p.Tyr192Cys, XP_011543381.1:p.Tyr192Cys, NP_789768.1:p.Tyr192Cys, NP_001264134.1:p.Tyr192Cys, NP_001264135.1:p.Tyr192Cys, NP_001264136.1:p.Tyr192Cys, NP_001264133.1:p.Tyr192Cys, XP_047282994.1:p.Tyr192Cys, XP_047282992.1:p.Tyr251Cys, XP_047282993.1:p.Tyr192Cys, NP_001264137.1:p.Tyr293Cys, XP_047282995.1:p.Tyr192Cys

                              15.

                              rs1449649894 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:73297351 (GRCh38)
                                11:73008396 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:73297350:C:T
                                Gene:
                                P2RY6 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000011.10:g.73297351C>T, NC_000011.9:g.73008396C>T, XM_006718571.4:c.833C>T, XM_006718571.3:c.833C>T, XM_006718571.2:c.833C>T, XM_006718571.1:c.833C>T, XM_005274022.4:c.833C>T, XM_005274022.3:c.833C>T, XM_005274022.2:c.833C>T, XM_005274022.1:c.833C>T, XM_011545076.3:c.1043C>T, XM_011545076.2:c.1043C>T, XM_011545076.1:c.1043C>T, NM_176796.3:c.833C>T, NM_176796.2:c.833C>T, NM_004154.3:c.833C>T, NM_176797.3:c.833C>T, NM_176797.2:c.833C>T, XM_011545079.3:c.833C>T, XM_011545079.2:c.833C>T, XM_011545079.1:c.833C>T, NM_176798.2:c.833C>T, NM_001277205.2:c.833C>T, NM_001277205.1:c.833C>T, NM_001277206.2:c.833C>T, NM_001277206.1:c.833C>T, NM_001277207.2:c.833C>T, NM_001277207.1:c.833C>T, NM_004154.2:c.833C>T, NM_001277204.2:c.833C>T, NM_001277204.1:c.833C>T, XM_047427038.1:c.833C>T, XM_047427036.1:c.1010C>T, XM_047427037.1:c.833C>T, NM_001277208.1:c.1136C>T, XM_047427039.1:c.833C>T, NM_004154.1:c.833C>T, XP_006718634.1:p.Ala278Val, XP_005274079.1:p.Ala278Val, XP_011543378.1:p.Ala348Val, NP_789766.1:p.Ala278Val, NP_789767.1:p.Ala278Val, XP_011543381.1:p.Ala278Val, NP_789768.1:p.Ala278Val, NP_001264134.1:p.Ala278Val, NP_001264135.1:p.Ala278Val, NP_001264136.1:p.Ala278Val, NP_001264133.1:p.Ala278Val, XP_047282994.1:p.Ala278Val, XP_047282992.1:p.Ala337Val, XP_047282993.1:p.Ala278Val, NP_001264137.1:p.Ala379Val, XP_047282995.1:p.Ala278Val

                                16.

                                rs1447677198 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:73297352 (GRCh38)
                                  11:73008397 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:73297351:C:T
                                  Gene:
                                  P2RY6 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000048/1 (ALFA)
                                  T=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.73297352C>T, NC_000011.9:g.73008397C>T, XM_006718571.4:c.834C>T, XM_006718571.3:c.834C>T, XM_006718571.2:c.834C>T, XM_006718571.1:c.834C>T, XM_005274022.4:c.834C>T, XM_005274022.3:c.834C>T, XM_005274022.2:c.834C>T, XM_005274022.1:c.834C>T, XM_011545076.3:c.1044C>T, XM_011545076.2:c.1044C>T, XM_011545076.1:c.1044C>T, NM_176796.3:c.834C>T, NM_176796.2:c.834C>T, NM_004154.3:c.834C>T, NM_176797.3:c.834C>T, NM_176797.2:c.834C>T, XM_011545079.3:c.834C>T, XM_011545079.2:c.834C>T, XM_011545079.1:c.834C>T, NM_176798.2:c.834C>T, NM_001277205.2:c.834C>T, NM_001277205.1:c.834C>T, NM_001277206.2:c.834C>T, NM_001277206.1:c.834C>T, NM_001277207.2:c.834C>T, NM_001277207.1:c.834C>T, NM_004154.2:c.834C>T, NM_001277204.2:c.834C>T, NM_001277204.1:c.834C>T, XM_047427038.1:c.834C>T, XM_047427036.1:c.1011C>T, XM_047427037.1:c.834C>T, NM_001277208.1:c.1137C>T, XM_047427039.1:c.834C>T, NM_004154.1:c.834C>T

                                  17.

                                  rs1445453391 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:73296735 (GRCh38)
                                    11:73007780 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:73296734:C:T
                                    Gene:
                                    P2RY6 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000011.10:g.73296735C>T, NC_000011.9:g.73007780C>T, XM_006718571.4:c.217C>T, XM_006718571.3:c.217C>T, XM_006718571.2:c.217C>T, XM_006718571.1:c.217C>T, XM_005274022.4:c.217C>T, XM_005274022.3:c.217C>T, XM_005274022.2:c.217C>T, XM_005274022.1:c.217C>T, XM_011545076.3:c.427C>T, XM_011545076.2:c.427C>T, XM_011545076.1:c.427C>T, NM_176796.3:c.217C>T, NM_176796.2:c.217C>T, NM_004154.3:c.217C>T, NM_176797.3:c.217C>T, NM_176797.2:c.217C>T, XM_011545079.3:c.217C>T, XM_011545079.2:c.217C>T, XM_011545079.1:c.217C>T, NM_176798.2:c.217C>T, NM_001277205.2:c.217C>T, NM_001277205.1:c.217C>T, NM_001277206.2:c.217C>T, NM_001277206.1:c.217C>T, NM_001277207.2:c.217C>T, NM_001277207.1:c.217C>T, NM_004154.2:c.217C>T, NM_001277204.2:c.217C>T, NM_001277204.1:c.217C>T, XM_047427038.1:c.217C>T, XM_047427036.1:c.394C>T, XM_047427037.1:c.217C>T, NM_001277208.1:c.520C>T, XM_047427039.1:c.217C>T, NM_004154.1:c.217C>T

                                    18.

                                    rs1443577869 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      11:73296529 (GRCh38)
                                      11:73007574 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:73296528:A:T
                                      Gene:
                                      P2RY6 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000011.10:g.73296529A>T, NC_000011.9:g.73007574A>T, XM_006718571.4:c.11A>T, XM_006718571.3:c.11A>T, XM_006718571.2:c.11A>T, XM_006718571.1:c.11A>T, XM_005274022.4:c.11A>T, XM_005274022.3:c.11A>T, XM_005274022.2:c.11A>T, XM_005274022.1:c.11A>T, XM_011545076.3:c.221A>T, XM_011545076.2:c.221A>T, XM_011545076.1:c.221A>T, NM_176796.3:c.11A>T, NM_176796.2:c.11A>T, NM_004154.3:c.11A>T, NM_176797.3:c.11A>T, NM_176797.2:c.11A>T, XM_011545079.3:c.11A>T, XM_011545079.2:c.11A>T, XM_011545079.1:c.11A>T, NM_176798.2:c.11A>T, NM_001277205.2:c.11A>T, NM_001277205.1:c.11A>T, NM_001277206.2:c.11A>T, NM_001277206.1:c.11A>T, NM_001277207.2:c.11A>T, NM_001277207.1:c.11A>T, NM_004154.2:c.11A>T, NM_001277204.2:c.11A>T, NM_001277204.1:c.11A>T, XM_047427038.1:c.11A>T, XM_047427036.1:c.188A>T, XM_047427037.1:c.11A>T, NM_001277208.1:c.314A>T, XM_047427039.1:c.11A>T, NM_004154.1:c.11A>T, XP_006718634.1:p.Asp4Val, XP_005274079.1:p.Asp4Val, XP_011543378.1:p.Asp74Val, NP_789766.1:p.Asp4Val, NP_789767.1:p.Asp4Val, XP_011543381.1:p.Asp4Val, NP_789768.1:p.Asp4Val, NP_001264134.1:p.Asp4Val, NP_001264135.1:p.Asp4Val, NP_001264136.1:p.Asp4Val, NP_001264133.1:p.Asp4Val, XP_047282994.1:p.Asp4Val, XP_047282992.1:p.Asp63Val, XP_047282993.1:p.Asp4Val, NP_001264137.1:p.Asp105Val, XP_047282995.1:p.Asp4Val

                                      19.

                                      rs1443084284 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:73297379 (GRCh38)
                                        11:73008424 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:73297378:G:A
                                        Gene:
                                        P2RY6 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.73297379G>A, NC_000011.9:g.73008424G>A, XM_006718571.4:c.861G>A, XM_006718571.3:c.861G>A, XM_006718571.2:c.861G>A, XM_006718571.1:c.861G>A, XM_005274022.4:c.861G>A, XM_005274022.3:c.861G>A, XM_005274022.2:c.861G>A, XM_005274022.1:c.861G>A, XM_011545076.3:c.1071G>A, XM_011545076.2:c.1071G>A, XM_011545076.1:c.1071G>A, NM_176796.3:c.861G>A, NM_176796.2:c.861G>A, NM_004154.3:c.861G>A, NM_176797.3:c.861G>A, NM_176797.2:c.861G>A, XM_011545079.3:c.861G>A, XM_011545079.2:c.861G>A, XM_011545079.1:c.861G>A, NM_176798.2:c.861G>A, NM_001277205.2:c.861G>A, NM_001277205.1:c.861G>A, NM_001277206.2:c.861G>A, NM_001277206.1:c.861G>A, NM_001277207.2:c.861G>A, NM_001277207.1:c.861G>A, NM_004154.2:c.861G>A, NM_001277204.2:c.861G>A, NM_001277204.1:c.861G>A, XM_047427038.1:c.861G>A, XM_047427036.1:c.1038G>A, XM_047427037.1:c.861G>A, NM_001277208.1:c.1164G>A, XM_047427039.1:c.861G>A, NM_004154.1:c.861G>A

                                        20.

                                        rs1439940499 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:73296647 (GRCh38)
                                          11:73007692 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:73296646:G:A
                                          Gene:
                                          P2RY6 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.73296647G>A, NC_000011.9:g.73007692G>A, XM_006718571.4:c.129G>A, XM_006718571.3:c.129G>A, XM_006718571.2:c.129G>A, XM_006718571.1:c.129G>A, XM_005274022.4:c.129G>A, XM_005274022.3:c.129G>A, XM_005274022.2:c.129G>A, XM_005274022.1:c.129G>A, XM_011545076.3:c.339G>A, XM_011545076.2:c.339G>A, XM_011545076.1:c.339G>A, NM_176796.3:c.129G>A, NM_176796.2:c.129G>A, NM_004154.3:c.129G>A, NM_176797.3:c.129G>A, NM_176797.2:c.129G>A, XM_011545079.3:c.129G>A, XM_011545079.2:c.129G>A, XM_011545079.1:c.129G>A, NM_176798.2:c.129G>A, NM_001277205.2:c.129G>A, NM_001277205.1:c.129G>A, NM_001277206.2:c.129G>A, NM_001277206.1:c.129G>A, NM_001277207.2:c.129G>A, NM_001277207.1:c.129G>A, NM_004154.2:c.129G>A, NM_001277204.2:c.129G>A, NM_001277204.1:c.129G>A, XM_047427038.1:c.129G>A, XM_047427036.1:c.306G>A, XM_047427037.1:c.129G>A, NM_001277208.1:c.432G>A, XM_047427039.1:c.129G>A, NM_004154.1:c.129G>A

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