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Items: 1 to 20 of 368

1.

rs1489746528 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    22:21026024 (GRCh38)
    22:21380313 (GRCh37)
    Canonical SPDI:
    NC_000022.11:21026023:G:A
    Gene:
    P2RX6 (Varview)
    Functional Consequence:
    intron_variant,3_prime_UTR_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000011/3 (TOPMED)
    HGVS:
    NC_000022.11:g.21026024G>A, NC_000022.10:g.21380313G>A, NM_005446.5:c.998G>A, NM_005446.4:c.998G>A, NM_005446.3:c.998G>A, XM_011530498.3:c.1008G>A, XM_011530498.2:c.1008G>A, XM_011530498.1:c.1008G>A, XM_011530499.3:c.936G>A, XM_011530499.2:c.936G>A, XM_011530499.1:c.936G>A, XM_011530500.3:c.930G>A, XM_011530500.2:c.930G>A, XM_011530500.1:c.930G>A, XR_937950.3:n.1018G>A, XR_937950.2:n.1733G>A, XR_937950.1:n.1732G>A, XR_937952.3:n.1008G>A, XR_937952.2:n.1721G>A, XR_937952.1:n.1720G>A, XM_011530502.3:c.*20G>A, XM_011530502.2:c.*20G>A, XM_011530502.1:c.*20G>A, NM_001349874.2:c.545G>A, NM_001349874.1:c.545G>A, XM_017029074.2:c.545G>A, XM_017029074.1:c.545G>A, NM_001159554.2:c.920G>A, NM_001159554.1:c.920G>A, NM_001349875.2:c.545G>A, NM_001349875.1:c.545G>A, NM_001349876.2:c.532G>A, NM_001349876.1:c.532G>A, XM_017029075.2:c.545G>A, XM_017029075.1:c.545G>A, NM_001394696.1:c.545G>A, XM_047441591.1:c.545G>A, NM_001394691.1:c.985G>A, NM_001394693.1:c.926G>A, NM_001394697.1:c.545G>A, XM_047441587.1:c.913G>A, XM_047441588.1:c.907G>A, NM_001394694.1:c.848G>A, NM_001394695.1:c.920G>A, XM_047441589.1:c.555G>A, XR_007067990.1:n.995G>A, XR_007067991.1:n.936G>A, XR_007067992.1:n.930G>A, NP_005437.2:p.Gly333Glu, NP_001336803.1:p.Gly182Glu, XP_016884563.1:p.Gly182Glu, NP_001153026.1:p.Gly307Glu, NP_001336804.1:p.Gly182Glu, NP_001336805.1:p.Gly178Ser, XP_016884564.1:p.Gly182Glu, NP_001381625.1:p.Gly182Glu, XP_047297547.1:p.Gly182Glu, NP_001381620.1:p.Gly329Ser, NP_001381622.1:p.Gly309Glu, NP_001381626.1:p.Gly182Glu, XP_047297543.1:p.Gly305Ser, XP_047297544.1:p.Gly303Ser, NP_001381623.1:p.Gly283Glu, NP_001381624.1:p.Gly307Glu

    2.

    rs1487693275 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      22:21026039 (GRCh38)
      22:21380328 (GRCh37)
      Canonical SPDI:
      NC_000022.11:21026038:C:T
      Gene:
      P2RX6 (Varview)
      Functional Consequence:
      intron_variant,3_prime_UTR_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000022.11:g.21026039C>T, NC_000022.10:g.21380328C>T, NM_005446.5:c.1013C>T, NM_005446.4:c.1013C>T, NM_005446.3:c.1013C>T, XM_011530498.3:c.1023C>T, XM_011530498.2:c.1023C>T, XM_011530498.1:c.1023C>T, XM_011530499.3:c.951C>T, XM_011530499.2:c.951C>T, XM_011530499.1:c.951C>T, XM_011530500.3:c.945C>T, XM_011530500.2:c.945C>T, XM_011530500.1:c.945C>T, XR_937950.3:n.1033C>T, XR_937950.2:n.1748C>T, XR_937950.1:n.1747C>T, XR_937952.3:n.1023C>T, XR_937952.2:n.1736C>T, XR_937952.1:n.1735C>T, XM_011530502.3:c.*35C>T, XM_011530502.2:c.*35C>T, XM_011530502.1:c.*35C>T, NM_001349874.2:c.560C>T, NM_001349874.1:c.560C>T, XM_017029074.2:c.560C>T, XM_017029074.1:c.560C>T, NM_001159554.2:c.935C>T, NM_001159554.1:c.935C>T, NM_001349875.2:c.560C>T, NM_001349875.1:c.560C>T, NM_001349876.2:c.547C>T, NM_001349876.1:c.547C>T, XM_017029075.2:c.560C>T, XM_017029075.1:c.560C>T, NM_001394696.1:c.560C>T, XM_047441591.1:c.560C>T, NM_001394691.1:c.1000C>T, NM_001394693.1:c.941C>T, NM_001394697.1:c.560C>T, XM_047441587.1:c.928C>T, XM_047441588.1:c.922C>T, NM_001394694.1:c.863C>T, NM_001394695.1:c.935C>T, XM_047441589.1:c.570C>T, XR_007067990.1:n.1010C>T, XR_007067991.1:n.951C>T, XR_007067992.1:n.945C>T, NP_005437.2:p.Ala338Val, NP_001336803.1:p.Ala187Val, XP_016884563.1:p.Ala187Val, NP_001153026.1:p.Ala312Val, NP_001336804.1:p.Ala187Val, NP_001336805.1:p.Pro183Ser, XP_016884564.1:p.Ala187Val, NP_001381625.1:p.Ala187Val, XP_047297547.1:p.Ala187Val, NP_001381620.1:p.Pro334Ser, NP_001381622.1:p.Ala314Val, NP_001381626.1:p.Ala187Val, XP_047297543.1:p.Pro310Ser, XP_047297544.1:p.Pro308Ser, NP_001381623.1:p.Ala288Val, NP_001381624.1:p.Ala312Val

      3.

      rs1487366616 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        22:21025809 (GRCh38)
        22:21380098 (GRCh37)
        Canonical SPDI:
        NC_000022.11:21025808:G:A
        Gene:
        P2RX6 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
        HGVS:
        NC_000022.11:g.21025809G>A, NC_000022.10:g.21380098G>A, NM_005446.5:c.895G>A, NM_005446.4:c.895G>A, NM_005446.3:c.895G>A, XM_011530498.3:c.895G>A, XM_011530498.2:c.895G>A, XM_011530498.1:c.895G>A, XM_011530499.3:c.823G>A, XM_011530499.2:c.823G>A, XM_011530499.1:c.823G>A, XM_011530500.3:c.817G>A, XM_011530500.2:c.817G>A, XM_011530500.1:c.817G>A, XR_937950.3:n.905G>A, XR_937950.2:n.1620G>A, XR_937950.1:n.1619G>A, XR_937952.3:n.905G>A, XR_937952.2:n.1618G>A, XR_937952.1:n.1617G>A, XM_011530502.3:c.882G>A, XM_011530502.2:c.882G>A, XM_011530502.1:c.882G>A, NM_001349874.2:c.442G>A, NM_001349874.1:c.442G>A, XM_017029074.2:c.442G>A, XM_017029074.1:c.442G>A, NM_001159554.2:c.817G>A, NM_001159554.1:c.817G>A, NM_001349875.2:c.442G>A, NM_001349875.1:c.442G>A, NM_001349876.2:c.429G>A, NM_001349876.1:c.429G>A, XM_017029068.2:c.895G>A, XM_017029068.1:c.895G>A, XM_017029066.2:c.882G>A, XM_017029066.1:c.882G>A, XM_017029075.2:c.442G>A, XM_017029075.1:c.442G>A, NM_001394696.1:c.442G>A, XM_047441591.1:c.442G>A, NM_001394691.1:c.882G>A, NM_001394692.1:c.895G>A, NM_001394693.1:c.823G>A, NM_001394697.1:c.442G>A, XM_047441587.1:c.810G>A, XM_047441588.1:c.804G>A, NM_001394694.1:c.745G>A, NM_001394695.1:c.817G>A, XM_047441589.1:c.442G>A, XM_047441590.1:c.823G>A, XR_007067990.1:n.892G>A, XR_007067991.1:n.833G>A, XR_007067992.1:n.827G>A, NP_005437.2:p.Ala299Thr, XP_011528800.1:p.Ala299Thr, XP_011528801.1:p.Ala275Thr, XP_011528802.1:p.Ala273Thr, NP_001336803.1:p.Ala148Thr, XP_016884563.1:p.Ala148Thr, NP_001153026.1:p.Ala273Thr, NP_001336804.1:p.Ala148Thr, XP_016884557.1:p.Ala299Thr, XP_016884564.1:p.Ala148Thr, NP_001381625.1:p.Ala148Thr, XP_047297547.1:p.Ala148Thr, NP_001381621.1:p.Ala299Thr, NP_001381622.1:p.Ala275Thr, NP_001381626.1:p.Ala148Thr, NP_001381623.1:p.Ala249Thr, NP_001381624.1:p.Ala273Thr, XP_047297545.1:p.Ala148Thr, XP_047297546.1:p.Ala275Thr

        4.

        rs1486999582 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          22:21026691 (GRCh38)
          22:21380980 (GRCh37)
          Canonical SPDI:
          NC_000022.11:21026690:C:T
          Gene:
          P2RX6 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,stop_gained
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000022.11:g.21026691C>T, NC_000022.10:g.21380980C>T, NM_005446.5:c.*74C>T, NM_005446.4:c.*74C>T, NM_005446.3:c.*74C>T, XM_011530498.3:c.1585C>T, XM_011530498.2:c.1585C>T, XM_011530498.1:c.1585C>T, XM_011530499.3:c.1513C>T, XM_011530499.2:c.1513C>T, XM_011530499.1:c.1513C>T, XM_011530500.3:c.1507C>T, XM_011530500.2:c.1507C>T, XM_011530500.1:c.1507C>T, XR_937950.3:n.1595C>T, XR_937950.2:n.2310C>T, XR_937950.1:n.2309C>T, XR_937952.3:n.1410C>T, XR_937952.2:n.2123C>T, XR_937952.1:n.2122C>T, NM_001349874.2:c.*74C>T, NM_001349874.1:c.*74C>T, XM_017029074.2:c.*74C>T, XM_017029074.1:c.*74C>T, NM_001159554.2:c.*74C>T, NM_001159554.1:c.*74C>T, NM_001349875.2:c.*74C>T, NM_001349875.1:c.*74C>T, NM_001349876.2:c.934C>T, NM_001349876.1:c.934C>T, XM_017029068.2:c.*74C>T, XM_017029068.1:c.*74C>T, XM_017029066.2:c.1243C>T, XM_017029066.1:c.1243C>T, XM_017029075.2:c.*74C>T, XM_017029075.1:c.*74C>T, NM_001394696.1:c.*74C>T, XM_047441591.1:c.*74C>T, NM_001394691.1:c.1387C>T, NM_001394692.1:c.*74C>T, NM_001394693.1:c.*74C>T, NM_001394697.1:c.*74C>T, XM_047441587.1:c.1315C>T, XM_047441588.1:c.1309C>T, NM_001394694.1:c.*74C>T, NM_001394695.1:c.*74C>T, XM_047441589.1:c.1132C>T, XM_047441590.1:c.*74C>T, XR_007067990.1:n.1397C>T, XR_007067991.1:n.1338C>T, XR_007067992.1:n.1332C>T, XP_011528800.1:p.Gln529Ter, XP_011528801.1:p.Gln505Ter, XP_011528802.1:p.Gln503Ter, NP_001336805.1:p.Gln312Ter, XP_016884555.1:p.Gln415Ter, NP_001381620.1:p.Gln463Ter, XP_047297543.1:p.Gln439Ter, XP_047297544.1:p.Gln437Ter, XP_047297545.1:p.Gln378Ter

          5.

          rs1483068801 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            22:21025861 (GRCh38)
            22:21380150 (GRCh37)
            Canonical SPDI:
            NC_000022.11:21025860:T:C
            Gene:
            P2RX6 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000011/2 (GnomAD_exomes)
            HGVS:
            NC_000022.11:g.21025861T>C, NC_000022.10:g.21380150T>C, NM_005446.5:c.947T>C, NM_005446.4:c.947T>C, NM_005446.3:c.947T>C, XM_011530498.3:c.947T>C, XM_011530498.2:c.947T>C, XM_011530498.1:c.947T>C, XM_011530499.3:c.875T>C, XM_011530499.2:c.875T>C, XM_011530499.1:c.875T>C, XM_011530500.3:c.869T>C, XM_011530500.2:c.869T>C, XM_011530500.1:c.869T>C, XR_937950.3:n.957T>C, XR_937950.2:n.1672T>C, XR_937950.1:n.1671T>C, XR_937952.3:n.957T>C, XR_937952.2:n.1670T>C, XR_937952.1:n.1669T>C, XM_011530502.3:c.934T>C, XM_011530502.2:c.934T>C, XM_011530502.1:c.934T>C, NM_001349874.2:c.494T>C, NM_001349874.1:c.494T>C, XM_017029074.2:c.494T>C, XM_017029074.1:c.494T>C, NM_001159554.2:c.869T>C, NM_001159554.1:c.869T>C, NM_001349875.2:c.494T>C, NM_001349875.1:c.494T>C, NM_001349876.2:c.481T>C, NM_001349876.1:c.481T>C, XM_017029068.2:c.947T>C, XM_017029068.1:c.947T>C, XM_017029066.2:c.934T>C, XM_017029066.1:c.934T>C, XM_017029075.2:c.494T>C, XM_017029075.1:c.494T>C, NM_001394696.1:c.494T>C, XM_047441591.1:c.494T>C, NM_001394691.1:c.934T>C, NM_001394692.1:c.947T>C, NM_001394693.1:c.875T>C, NM_001394697.1:c.494T>C, XM_047441587.1:c.862T>C, XM_047441588.1:c.856T>C, NM_001394694.1:c.797T>C, NM_001394695.1:c.869T>C, XM_047441589.1:c.494T>C, XM_047441590.1:c.875T>C, XR_007067990.1:n.944T>C, XR_007067991.1:n.885T>C, XR_007067992.1:n.879T>C, NP_005437.2:p.Leu316Pro, XP_011528800.1:p.Leu316Pro, XP_011528801.1:p.Leu292Pro, XP_011528802.1:p.Leu290Pro, XP_011528804.1:p.Ser312Pro, NP_001336803.1:p.Leu165Pro, XP_016884563.1:p.Leu165Pro, NP_001153026.1:p.Leu290Pro, NP_001336804.1:p.Leu165Pro, NP_001336805.1:p.Ser161Pro, XP_016884557.1:p.Leu316Pro, XP_016884555.1:p.Ser312Pro, XP_016884564.1:p.Leu165Pro, NP_001381625.1:p.Leu165Pro, XP_047297547.1:p.Leu165Pro, NP_001381620.1:p.Ser312Pro, NP_001381621.1:p.Leu316Pro, NP_001381622.1:p.Leu292Pro, NP_001381626.1:p.Leu165Pro, XP_047297543.1:p.Ser288Pro, XP_047297544.1:p.Ser286Pro, NP_001381623.1:p.Leu266Pro, NP_001381624.1:p.Leu290Pro, XP_047297545.1:p.Leu165Pro, XP_047297546.1:p.Leu292Pro

            6.

            rs1478953193 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              22:21026316 (GRCh38)
              22:21380605 (GRCh37)
              Canonical SPDI:
              NC_000022.11:21026315:C:T
              Gene:
              P2RX6 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,stop_gained
              HGVS:
              NC_000022.11:g.21026316C>T, NC_000022.10:g.21380605C>T, NM_005446.5:c.1115C>T, NM_005446.4:c.1115C>T, NM_005446.3:c.1115C>T, XM_011530498.3:c.1300C>T, XM_011530498.2:c.1300C>T, XM_011530498.1:c.1300C>T, XM_011530499.3:c.1228C>T, XM_011530499.2:c.1228C>T, XM_011530499.1:c.1228C>T, XM_011530500.3:c.1222C>T, XM_011530500.2:c.1222C>T, XM_011530500.1:c.1222C>T, XR_937950.3:n.1310C>T, XR_937950.2:n.2025C>T, XR_937950.1:n.2024C>T, XR_937952.3:n.1125C>T, XR_937952.2:n.1838C>T, XR_937952.1:n.1837C>T, NM_001349874.2:c.662C>T, NM_001349874.1:c.662C>T, XM_017029074.2:c.662C>T, XM_017029074.1:c.662C>T, NM_001159554.2:c.1037C>T, NM_001159554.1:c.1037C>T, NM_001349875.2:c.662C>T, NM_001349875.1:c.662C>T, NM_001349876.2:c.649C>T, NM_001349876.1:c.649C>T, XM_017029075.2:c.662C>T, XM_017029075.1:c.662C>T, NM_001394696.1:c.662C>T, XM_047441591.1:c.662C>T, NM_001394691.1:c.1102C>T, NM_001394692.1:c.1049C>T, NM_001394693.1:c.1043C>T, NM_001394697.1:c.662C>T, XM_047441587.1:c.1030C>T, XM_047441588.1:c.1024C>T, NM_001394694.1:c.965C>T, XM_047441589.1:c.847C>T, XR_007067990.1:n.1112C>T, XR_007067991.1:n.1053C>T, XR_007067992.1:n.1047C>T, NP_005437.2:p.Thr372Ile, XP_011528800.1:p.Gln434Ter, XP_011528801.1:p.Gln410Ter, XP_011528802.1:p.Gln408Ter, NP_001336803.1:p.Thr221Ile, XP_016884563.1:p.Thr221Ile, NP_001153026.1:p.Thr346Ile, NP_001336804.1:p.Thr221Ile, NP_001336805.1:p.Gln217Ter, XP_016884564.1:p.Thr221Ile, NP_001381625.1:p.Thr221Ile, XP_047297547.1:p.Thr221Ile, NP_001381620.1:p.Gln368Ter, NP_001381621.1:p.Thr350Ile, NP_001381622.1:p.Thr348Ile, NP_001381626.1:p.Thr221Ile, XP_047297543.1:p.Gln344Ter, XP_047297544.1:p.Gln342Ter, NP_001381623.1:p.Thr322Ile, XP_047297545.1:p.Gln283Ter

              7.

              rs1476686801 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                22:21026624 (GRCh38)
                22:21380913 (GRCh37)
                Canonical SPDI:
                NC_000022.11:21026623:C:T
                Gene:
                P2RX6 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000011/3 (TOPMED)
                HGVS:
                NC_000022.11:g.21026624C>T, NC_000022.10:g.21380913C>T, NM_005446.5:c.*7C>T, NM_005446.4:c.*7C>T, NM_005446.3:c.*7C>T, XM_011530498.3:c.1518C>T, XM_011530498.2:c.1518C>T, XM_011530498.1:c.1518C>T, XM_011530499.3:c.1446C>T, XM_011530499.2:c.1446C>T, XM_011530499.1:c.1446C>T, XM_011530500.3:c.1440C>T, XM_011530500.2:c.1440C>T, XM_011530500.1:c.1440C>T, XR_937950.3:n.1528C>T, XR_937950.2:n.2243C>T, XR_937950.1:n.2242C>T, XR_937952.3:n.1343C>T, XR_937952.2:n.2056C>T, XR_937952.1:n.2055C>T, NM_001349874.2:c.*7C>T, NM_001349874.1:c.*7C>T, XM_017029074.2:c.*7C>T, XM_017029074.1:c.*7C>T, NM_001159554.2:c.*7C>T, NM_001159554.1:c.*7C>T, NM_001349875.2:c.*7C>T, NM_001349875.1:c.*7C>T, NM_001349876.2:c.867C>T, NM_001349876.1:c.867C>T, XM_017029068.2:c.*7C>T, XM_017029068.1:c.*7C>T, XM_017029066.2:c.1176C>T, XM_017029066.1:c.1176C>T, XM_017029075.2:c.*7C>T, XM_017029075.1:c.*7C>T, NM_001394696.1:c.*7C>T, XM_047441591.1:c.*7C>T, NM_001394691.1:c.1320C>T, NM_001394692.1:c.*7C>T, NM_001394693.1:c.*7C>T, NM_001394697.1:c.*7C>T, XM_047441587.1:c.1248C>T, XM_047441588.1:c.1242C>T, NM_001394694.1:c.*7C>T, NM_001394695.1:c.*7C>T, XM_047441589.1:c.1065C>T, XM_047441590.1:c.*7C>T, XR_007067990.1:n.1330C>T, XR_007067991.1:n.1271C>T, XR_007067992.1:n.1265C>T

                8.

                rs1469938662 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  22:21023341 (GRCh38)
                  22:21377630 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:21023340:C:T
                  Gene:
                  P2RX6 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  NC_000022.11:g.21023341C>T, NC_000022.10:g.21377630C>T, NM_005446.5:c.705C>T, NM_005446.4:c.705C>T, NM_005446.3:c.705C>T, XM_011530498.3:c.705C>T, XM_011530498.2:c.705C>T, XM_011530498.1:c.705C>T, XM_011530499.3:c.633C>T, XM_011530499.2:c.633C>T, XM_011530499.1:c.633C>T, XM_011530500.3:c.627C>T, XM_011530500.2:c.627C>T, XM_011530500.1:c.627C>T, XR_937950.3:n.715C>T, XR_937950.2:n.1430C>T, XR_937950.1:n.1429C>T, XR_937952.3:n.715C>T, XR_937952.2:n.1428C>T, XR_937952.1:n.1427C>T, XM_011530502.3:c.705C>T, XM_011530502.2:c.705C>T, XM_011530502.1:c.705C>T, NM_001349874.2:c.252C>T, NM_001349874.1:c.252C>T, XM_017029074.2:c.252C>T, XM_017029074.1:c.252C>T, NM_001159554.2:c.627C>T, NM_001159554.1:c.627C>T, NM_001349875.2:c.252C>T, NM_001349875.1:c.252C>T, NM_001349876.2:c.252C>T, NM_001349876.1:c.252C>T, XM_017029068.2:c.705C>T, XM_017029068.1:c.705C>T, XM_017029066.2:c.705C>T, XM_017029066.1:c.705C>T, XM_017029075.2:c.252C>T, XM_017029075.1:c.252C>T, NM_001394696.1:c.252C>T, XM_047441591.1:c.252C>T, NM_001394691.1:c.705C>T, NM_001394692.1:c.705C>T, NM_001394693.1:c.633C>T, NM_001394697.1:c.252C>T, XM_047441587.1:c.633C>T, XM_047441588.1:c.627C>T, NM_001394694.1:c.555C>T, NM_001394695.1:c.627C>T, XM_047441589.1:c.252C>T, XM_047441590.1:c.633C>T, XR_007067990.1:n.715C>T, XR_007067991.1:n.643C>T, XR_007067992.1:n.637C>T

                  9.

                  rs1468230700 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    22:21022944 (GRCh38)
                    22:21377233 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:21022943:G:A
                    Gene:
                    P2RX6 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000022.11:g.21022944G>A, NC_000022.10:g.21377233G>A, NM_005446.5:c.466G>A, NM_005446.4:c.466G>A, NM_005446.3:c.466G>A, XM_011530498.3:c.466G>A, XM_011530498.2:c.466G>A, XM_011530498.1:c.466G>A, XM_011530499.3:c.394G>A, XM_011530499.2:c.394G>A, XM_011530499.1:c.394G>A, XM_011530500.3:c.388G>A, XM_011530500.2:c.388G>A, XM_011530500.1:c.388G>A, XR_937950.3:n.476G>A, XR_937950.2:n.1191G>A, XR_937950.1:n.1190G>A, XR_937952.3:n.476G>A, XR_937952.2:n.1189G>A, XR_937952.1:n.1188G>A, XM_011530502.3:c.466G>A, XM_011530502.2:c.466G>A, XM_011530502.1:c.466G>A, NM_001349874.2:c.13G>A, NM_001349874.1:c.13G>A, XM_017029074.2:c.13G>A, XM_017029074.1:c.13G>A, NM_001159554.2:c.388G>A, NM_001159554.1:c.388G>A, NM_001349875.2:c.13G>A, NM_001349875.1:c.13G>A, NM_001349876.2:c.13G>A, NM_001349876.1:c.13G>A, XM_017029068.2:c.466G>A, XM_017029068.1:c.466G>A, XM_017029066.2:c.466G>A, XM_017029066.1:c.466G>A, XM_017029075.2:c.13G>A, XM_017029075.1:c.13G>A, NM_001394696.1:c.13G>A, XM_047441591.1:c.13G>A, NM_001394691.1:c.466G>A, NM_001394692.1:c.466G>A, NM_001394693.1:c.394G>A, NM_001394697.1:c.13G>A, XM_047441587.1:c.394G>A, XM_047441588.1:c.388G>A, NM_001394694.1:c.316G>A, NM_001394695.1:c.388G>A, XM_047441589.1:c.13G>A, XM_047441590.1:c.394G>A, XR_007067990.1:n.476G>A, XR_007067991.1:n.404G>A, XR_007067992.1:n.398G>A, NP_005437.2:p.Val156Ile, XP_011528800.1:p.Val156Ile, XP_011528801.1:p.Val132Ile, XP_011528802.1:p.Val130Ile, XP_011528804.1:p.Val156Ile, NP_001336803.1:p.Val5Ile, XP_016884563.1:p.Val5Ile, NP_001153026.1:p.Val130Ile, NP_001336804.1:p.Val5Ile, NP_001336805.1:p.Val5Ile, XP_016884557.1:p.Val156Ile, XP_016884555.1:p.Val156Ile, XP_016884564.1:p.Val5Ile, NP_001381625.1:p.Val5Ile, XP_047297547.1:p.Val5Ile, NP_001381620.1:p.Val156Ile, NP_001381621.1:p.Val156Ile, NP_001381622.1:p.Val132Ile, NP_001381626.1:p.Val5Ile, XP_047297543.1:p.Val132Ile, XP_047297544.1:p.Val130Ile, NP_001381623.1:p.Val106Ile, NP_001381624.1:p.Val130Ile, XP_047297545.1:p.Val5Ile, XP_047297546.1:p.Val132Ile

                    10.

                    rs1467918816 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      22:21018054 (GRCh38)
                      22:21372343 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:21018053:C:T
                      Gene:
                      P2RX6 (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                      HGVS:
                      NC_000022.11:g.21018054C>T, NC_000022.10:g.21372343C>T, NM_005446.5:c.381C>T, NM_005446.4:c.381C>T, NM_005446.3:c.381C>T, XM_011530498.3:c.381C>T, XM_011530498.2:c.381C>T, XM_011530498.1:c.381C>T, XM_011530500.3:c.303C>T, XM_011530500.2:c.303C>T, XM_011530500.1:c.303C>T, XR_937950.3:n.391C>T, XR_937950.2:n.1106C>T, XR_937950.1:n.1105C>T, XR_937952.3:n.391C>T, XR_937952.2:n.1104C>T, XR_937952.1:n.1103C>T, XM_011530502.3:c.381C>T, XM_011530502.2:c.381C>T, XM_011530502.1:c.381C>T, NM_001349874.2:c.4C>T, NM_001349874.1:c.4C>T, XM_017029074.2:c.4C>T, XM_017029074.1:c.4C>T, NM_001159554.2:c.303C>T, NM_001159554.1:c.303C>T, NM_001349875.2:c.4C>T, NM_001349875.1:c.4C>T, NM_001349876.2:c.4C>T, NM_001349876.1:c.4C>T, XM_017029068.2:c.381C>T, XM_017029068.1:c.381C>T, XM_017029066.2:c.381C>T, XM_017029066.1:c.381C>T, XM_017029075.2:c.4C>T, XM_017029075.1:c.4C>T, NM_001394696.1:c.4C>T, XM_047441591.1:c.4C>T, NM_001394691.1:c.381C>T, NM_001394692.1:c.381C>T, NM_001394697.1:c.4C>T, XM_047441588.1:c.303C>T, NM_001394695.1:c.303C>T, XM_047441589.1:c.4C>T, XR_007067990.1:n.391C>T, XR_007067992.1:n.313C>T, NP_001336803.1:p.Pro2Ser, XP_016884563.1:p.Pro2Ser, NP_001336804.1:p.Pro2Ser, NP_001336805.1:p.Pro2Ser, XP_016884564.1:p.Pro2Ser, NP_001381625.1:p.Pro2Ser, XP_047297547.1:p.Pro2Ser, NP_001381626.1:p.Pro2Ser, XP_047297545.1:p.Pro2Ser

                      11.

                      rs1467901221 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        22:21026500 (GRCh38)
                        22:21380789 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:21026499:C:T
                        Gene:
                        P2RX6 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        NC_000022.11:g.21026500C>T, NC_000022.10:g.21380789C>T, NM_005446.5:c.1209C>T, NM_005446.4:c.1209C>T, NM_005446.3:c.1209C>T, XM_011530498.3:c.1394C>T, XM_011530498.2:c.1394C>T, XM_011530498.1:c.1394C>T, XM_011530499.3:c.1322C>T, XM_011530499.2:c.1322C>T, XM_011530499.1:c.1322C>T, XM_011530500.3:c.1316C>T, XM_011530500.2:c.1316C>T, XM_011530500.1:c.1316C>T, XR_937950.3:n.1404C>T, XR_937950.2:n.2119C>T, XR_937950.1:n.2118C>T, XR_937952.3:n.1219C>T, XR_937952.2:n.1932C>T, XR_937952.1:n.1931C>T, NM_001349874.2:c.756C>T, NM_001349874.1:c.756C>T, XM_017029074.2:c.756C>T, XM_017029074.1:c.756C>T, NM_001159554.2:c.1131C>T, NM_001159554.1:c.1131C>T, NM_001349875.2:c.756C>T, NM_001349875.1:c.756C>T, NM_001349876.2:c.743C>T, NM_001349876.1:c.743C>T, XM_017029068.2:c.1065C>T, XM_017029068.1:c.1065C>T, XM_017029066.2:c.1052C>T, XM_017029066.1:c.1052C>T, XM_017029075.2:c.756C>T, XM_017029075.1:c.756C>T, NM_001394696.1:c.756C>T, XM_047441591.1:c.756C>T, NM_001394691.1:c.1196C>T, NM_001394692.1:c.1143C>T, NM_001394693.1:c.1137C>T, NM_001394697.1:c.756C>T, XM_047441587.1:c.1124C>T, XM_047441588.1:c.1118C>T, NM_001394694.1:c.1059C>T, NM_001394695.1:c.1053C>T, XM_047441589.1:c.941C>T, XM_047441590.1:c.993C>T, XR_007067990.1:n.1206C>T, XR_007067991.1:n.1147C>T, XR_007067992.1:n.1141C>T, XP_011528800.1:p.Ser465Leu, XP_011528801.1:p.Ser441Leu, XP_011528802.1:p.Ser439Leu, NP_001336805.1:p.Ser248Leu, XP_016884555.1:p.Ser351Leu, NP_001381620.1:p.Ser399Leu, XP_047297543.1:p.Ser375Leu, XP_047297544.1:p.Ser373Leu, XP_047297545.1:p.Ser314Leu

                        12.

                        rs1467376467 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          22:21026261 (GRCh38)
                          22:21380550 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:21026260:T:C
                          Gene:
                          P2RX6 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000009/2 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.21026261T>C, NC_000022.10:g.21380550T>C, NM_005446.5:c.1060T>C, NM_005446.4:c.1060T>C, NM_005446.3:c.1060T>C, XM_011530498.3:c.1245T>C, XM_011530498.2:c.1245T>C, XM_011530498.1:c.1245T>C, XM_011530499.3:c.1173T>C, XM_011530499.2:c.1173T>C, XM_011530499.1:c.1173T>C, XM_011530500.3:c.1167T>C, XM_011530500.2:c.1167T>C, XM_011530500.1:c.1167T>C, XR_937950.3:n.1255T>C, XR_937950.2:n.1970T>C, XR_937950.1:n.1969T>C, XR_937952.3:n.1070T>C, XR_937952.2:n.1783T>C, XR_937952.1:n.1782T>C, NM_001349874.2:c.607T>C, NM_001349874.1:c.607T>C, XM_017029074.2:c.607T>C, XM_017029074.1:c.607T>C, NM_001159554.2:c.982T>C, NM_001159554.1:c.982T>C, NM_001349875.2:c.607T>C, NM_001349875.1:c.607T>C, NM_001349876.2:c.594T>C, NM_001349876.1:c.594T>C, XM_017029075.2:c.607T>C, XM_017029075.1:c.607T>C, NM_001394696.1:c.607T>C, XM_047441591.1:c.607T>C, NM_001394691.1:c.1047T>C, NM_001394692.1:c.994T>C, NM_001394693.1:c.988T>C, NM_001394697.1:c.607T>C, XM_047441587.1:c.975T>C, XM_047441588.1:c.969T>C, NM_001394694.1:c.910T>C, XM_047441589.1:c.792T>C, XR_007067990.1:n.1057T>C, XR_007067991.1:n.998T>C, XR_007067992.1:n.992T>C, NP_005437.2:p.Phe354Leu, NP_001336803.1:p.Phe203Leu, XP_016884563.1:p.Phe203Leu, NP_001153026.1:p.Phe328Leu, NP_001336804.1:p.Phe203Leu, XP_016884564.1:p.Phe203Leu, NP_001381625.1:p.Phe203Leu, XP_047297547.1:p.Phe203Leu, NP_001381621.1:p.Phe332Leu, NP_001381622.1:p.Phe330Leu, NP_001381626.1:p.Phe203Leu, NP_001381623.1:p.Phe304Leu

                          13.

                          rs1465469970 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            22:21023546 (GRCh38)
                            22:21377835 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:21023545:A:G
                            Gene:
                            P2RX6 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000022.11:g.21023546A>G, NC_000022.10:g.21377835A>G, NM_005446.5:c.818A>G, NM_005446.4:c.818A>G, NM_005446.3:c.818A>G, XM_011530498.3:c.818A>G, XM_011530498.2:c.818A>G, XM_011530498.1:c.818A>G, XM_011530499.3:c.746A>G, XM_011530499.2:c.746A>G, XM_011530499.1:c.746A>G, XM_011530500.3:c.740A>G, XM_011530500.2:c.740A>G, XM_011530500.1:c.740A>G, XR_937950.3:n.828A>G, XR_937950.2:n.1543A>G, XR_937950.1:n.1542A>G, XR_937952.3:n.828A>G, XR_937952.2:n.1541A>G, XR_937952.1:n.1540A>G, XM_011530502.3:c.805A>G, XM_011530502.2:c.805A>G, XM_011530502.1:c.805A>G, NM_001349874.2:c.365A>G, NM_001349874.1:c.365A>G, XM_017029074.2:c.365A>G, XM_017029074.1:c.365A>G, NM_001159554.2:c.740A>G, NM_001159554.1:c.740A>G, NM_001349875.2:c.365A>G, NM_001349875.1:c.365A>G, NM_001349876.2:c.352A>G, NM_001349876.1:c.352A>G, XM_017029068.2:c.818A>G, XM_017029068.1:c.818A>G, XM_017029066.2:c.805A>G, XM_017029066.1:c.805A>G, XM_017029075.2:c.365A>G, XM_017029075.1:c.365A>G, NM_001394696.1:c.365A>G, XM_047441591.1:c.365A>G, NM_001394691.1:c.805A>G, NM_001394692.1:c.818A>G, NM_001394693.1:c.746A>G, NM_001394697.1:c.365A>G, XM_047441587.1:c.733A>G, XM_047441588.1:c.727A>G, NM_001394694.1:c.668A>G, NM_001394695.1:c.740A>G, XM_047441589.1:c.365A>G, XM_047441590.1:c.746A>G, XR_007067990.1:n.815A>G, XR_007067991.1:n.756A>G, XR_007067992.1:n.750A>G, NP_005437.2:p.Asp273Gly, XP_011528800.1:p.Asp273Gly, XP_011528801.1:p.Asp249Gly, XP_011528802.1:p.Asp247Gly, XP_011528804.1:p.Thr269Ala, NP_001336803.1:p.Asp122Gly, XP_016884563.1:p.Asp122Gly, NP_001153026.1:p.Asp247Gly, NP_001336804.1:p.Asp122Gly, NP_001336805.1:p.Thr118Ala, XP_016884557.1:p.Asp273Gly, XP_016884555.1:p.Thr269Ala, XP_016884564.1:p.Asp122Gly, NP_001381625.1:p.Asp122Gly, XP_047297547.1:p.Asp122Gly, NP_001381620.1:p.Thr269Ala, NP_001381621.1:p.Asp273Gly, NP_001381622.1:p.Asp249Gly, NP_001381626.1:p.Asp122Gly, XP_047297543.1:p.Thr245Ala, XP_047297544.1:p.Thr243Ala, NP_001381623.1:p.Asp223Gly, NP_001381624.1:p.Asp247Gly, XP_047297545.1:p.Asp122Gly, XP_047297546.1:p.Asp249Gly

                            14.

                            rs1450950181 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              22:21026306 (GRCh38)
                              22:21380595 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:21026305:T:C
                              Gene:
                              P2RX6 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,synonymous_variant,missense_variant,coding_sequence_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_000022.11:g.21026306T>C, NC_000022.10:g.21380595T>C, NM_005446.5:c.1105T>C, NM_005446.4:c.1105T>C, NM_005446.3:c.1105T>C, XM_011530498.3:c.1290T>C, XM_011530498.2:c.1290T>C, XM_011530498.1:c.1290T>C, XM_011530499.3:c.1218T>C, XM_011530499.2:c.1218T>C, XM_011530499.1:c.1218T>C, XM_011530500.3:c.1212T>C, XM_011530500.2:c.1212T>C, XM_011530500.1:c.1212T>C, XR_937950.3:n.1300T>C, XR_937950.2:n.2015T>C, XR_937950.1:n.2014T>C, XR_937952.3:n.1115T>C, XR_937952.2:n.1828T>C, XR_937952.1:n.1827T>C, NM_001349874.2:c.652T>C, NM_001349874.1:c.652T>C, XM_017029074.2:c.652T>C, XM_017029074.1:c.652T>C, NM_001159554.2:c.1027T>C, NM_001159554.1:c.1027T>C, NM_001349875.2:c.652T>C, NM_001349875.1:c.652T>C, NM_001349876.2:c.639T>C, NM_001349876.1:c.639T>C, XM_017029075.2:c.652T>C, XM_017029075.1:c.652T>C, NM_001394696.1:c.652T>C, XM_047441591.1:c.652T>C, NM_001394691.1:c.1092T>C, NM_001394692.1:c.1039T>C, NM_001394693.1:c.1033T>C, NM_001394697.1:c.652T>C, XM_047441587.1:c.1020T>C, XM_047441588.1:c.1014T>C, NM_001394694.1:c.955T>C, XM_047441589.1:c.837T>C, XR_007067990.1:n.1102T>C, XR_007067991.1:n.1043T>C, XR_007067992.1:n.1037T>C, NP_005437.2:p.Tyr369His, NP_001336803.1:p.Tyr218His, XP_016884563.1:p.Tyr218His, NP_001153026.1:p.Tyr343His, NP_001336804.1:p.Tyr218His, XP_016884564.1:p.Tyr218His, NP_001381625.1:p.Tyr218His, XP_047297547.1:p.Tyr218His, NP_001381621.1:p.Tyr347His, NP_001381622.1:p.Tyr345His, NP_001381626.1:p.Tyr218His, NP_001381623.1:p.Tyr319His

                              15.

                              rs1447451201 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                22:21026686 (GRCh38)
                                22:21380975 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:21026685:G:A
                                Gene:
                                P2RX6 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000022.11:g.21026686G>A, NC_000022.10:g.21380975G>A, NM_005446.5:c.*69G>A, NM_005446.4:c.*69G>A, NM_005446.3:c.*69G>A, XM_011530498.3:c.1580G>A, XM_011530498.2:c.1580G>A, XM_011530498.1:c.1580G>A, XM_011530499.3:c.1508G>A, XM_011530499.2:c.1508G>A, XM_011530499.1:c.1508G>A, XM_011530500.3:c.1502G>A, XM_011530500.2:c.1502G>A, XM_011530500.1:c.1502G>A, XR_937950.3:n.1590G>A, XR_937950.2:n.2305G>A, XR_937950.1:n.2304G>A, XR_937952.3:n.1405G>A, XR_937952.2:n.2118G>A, XR_937952.1:n.2117G>A, NM_001349874.2:c.*69G>A, NM_001349874.1:c.*69G>A, XM_017029074.2:c.*69G>A, XM_017029074.1:c.*69G>A, NM_001159554.2:c.*69G>A, NM_001159554.1:c.*69G>A, NM_001349875.2:c.*69G>A, NM_001349875.1:c.*69G>A, NM_001349876.2:c.929G>A, NM_001349876.1:c.929G>A, XM_017029068.2:c.*69G>A, XM_017029068.1:c.*69G>A, XM_017029066.2:c.1238G>A, XM_017029066.1:c.1238G>A, XM_017029075.2:c.*69G>A, XM_017029075.1:c.*69G>A, NM_001394696.1:c.*69G>A, XM_047441591.1:c.*69G>A, NM_001394691.1:c.1382G>A, NM_001394692.1:c.*69G>A, NM_001394693.1:c.*69G>A, NM_001394697.1:c.*69G>A, XM_047441587.1:c.1310G>A, XM_047441588.1:c.1304G>A, NM_001394694.1:c.*69G>A, NM_001394695.1:c.*69G>A, XM_047441589.1:c.1127G>A, XM_047441590.1:c.*69G>A, XR_007067990.1:n.1392G>A, XR_007067991.1:n.1333G>A, XR_007067992.1:n.1327G>A, XP_011528800.1:p.Arg527Lys, XP_011528801.1:p.Arg503Lys, XP_011528802.1:p.Arg501Lys, NP_001336805.1:p.Arg310Lys, XP_016884555.1:p.Arg413Lys, NP_001381620.1:p.Arg461Lys, XP_047297543.1:p.Arg437Lys, XP_047297544.1:p.Arg435Lys, XP_047297545.1:p.Arg376Lys

                                16.

                                rs1445791018 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  22:21025881 (GRCh38)
                                  22:21380170 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:21025880:A:C,NC_000022.11:21025880:A:G
                                  Gene:
                                  P2RX6 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000022.11:g.21025881A>C, NC_000022.11:g.21025881A>G, NC_000022.10:g.21380170A>C, NC_000022.10:g.21380170A>G, NM_005446.5:c.967A>C, NM_005446.5:c.967A>G, NM_005446.4:c.967A>C, NM_005446.4:c.967A>G, NM_005446.3:c.967A>C, NM_005446.3:c.967A>G, XM_011530498.3:c.967A>C, XM_011530498.3:c.967A>G, XM_011530498.2:c.967A>C, XM_011530498.2:c.967A>G, XM_011530498.1:c.967A>C, XM_011530498.1:c.967A>G, XM_011530499.3:c.895A>C, XM_011530499.3:c.895A>G, XM_011530499.2:c.895A>C, XM_011530499.2:c.895A>G, XM_011530499.1:c.895A>C, XM_011530499.1:c.895A>G, XM_011530500.3:c.889A>C, XM_011530500.3:c.889A>G, XM_011530500.2:c.889A>C, XM_011530500.2:c.889A>G, XM_011530500.1:c.889A>C, XM_011530500.1:c.889A>G, XR_937950.3:n.977A>C, XR_937950.3:n.977A>G, XR_937950.2:n.1692A>C, XR_937950.2:n.1692A>G, XR_937950.1:n.1691A>C, XR_937950.1:n.1691A>G, XR_937952.3:n.977A>C, XR_937952.3:n.977A>G, XR_937952.2:n.1690A>C, XR_937952.2:n.1690A>G, XR_937952.1:n.1689A>C, XR_937952.1:n.1689A>G, XM_011530502.3:c.954A>C, XM_011530502.3:c.954A>G, XM_011530502.2:c.954A>C, XM_011530502.2:c.954A>G, XM_011530502.1:c.954A>C, XM_011530502.1:c.954A>G, NM_001349874.2:c.514A>C, NM_001349874.2:c.514A>G, NM_001349874.1:c.514A>C, NM_001349874.1:c.514A>G, XM_017029074.2:c.514A>C, XM_017029074.2:c.514A>G, XM_017029074.1:c.514A>C, XM_017029074.1:c.514A>G, NM_001159554.2:c.889A>C, NM_001159554.2:c.889A>G, NM_001159554.1:c.889A>C, NM_001159554.1:c.889A>G, NM_001349875.2:c.514A>C, NM_001349875.2:c.514A>G, NM_001349875.1:c.514A>C, NM_001349875.1:c.514A>G, NM_001349876.2:c.501A>C, NM_001349876.2:c.501A>G, NM_001349876.1:c.501A>C, NM_001349876.1:c.501A>G, XM_017029068.2:c.967A>C, XM_017029068.2:c.967A>G, XM_017029068.1:c.967A>C, XM_017029068.1:c.967A>G, XM_017029066.2:c.954A>C, XM_017029066.2:c.954A>G, XM_017029066.1:c.954A>C, XM_017029066.1:c.954A>G, XM_017029075.2:c.514A>C, XM_017029075.2:c.514A>G, XM_017029075.1:c.514A>C, XM_017029075.1:c.514A>G, NM_001394696.1:c.514A>C, NM_001394696.1:c.514A>G, XM_047441591.1:c.514A>C, XM_047441591.1:c.514A>G, NM_001394691.1:c.954A>C, NM_001394691.1:c.954A>G, NM_001394692.1:c.967A>C, NM_001394692.1:c.967A>G, NM_001394693.1:c.895A>C, NM_001394693.1:c.895A>G, NM_001394697.1:c.514A>C, NM_001394697.1:c.514A>G, XM_047441587.1:c.882A>C, XM_047441587.1:c.882A>G, XM_047441588.1:c.876A>C, XM_047441588.1:c.876A>G, NM_001394694.1:c.817A>C, NM_001394694.1:c.817A>G, NM_001394695.1:c.889A>C, NM_001394695.1:c.889A>G, XM_047441589.1:c.514A>C, XM_047441589.1:c.514A>G, XM_047441590.1:c.895A>C, XM_047441590.1:c.895A>G, XR_007067990.1:n.964A>C, XR_007067990.1:n.964A>G, XR_007067991.1:n.905A>C, XR_007067991.1:n.905A>G, XR_007067992.1:n.899A>C, XR_007067992.1:n.899A>G, NP_005437.2:p.Ile323Leu, NP_005437.2:p.Ile323Val, XP_011528800.1:p.Ile323Leu, XP_011528800.1:p.Ile323Val, XP_011528801.1:p.Ile299Leu, XP_011528801.1:p.Ile299Val, XP_011528802.1:p.Ile297Leu, XP_011528802.1:p.Ile297Val, NP_001336803.1:p.Ile172Leu, NP_001336803.1:p.Ile172Val, XP_016884563.1:p.Ile172Leu, XP_016884563.1:p.Ile172Val, NP_001153026.1:p.Ile297Leu, NP_001153026.1:p.Ile297Val, NP_001336804.1:p.Ile172Leu, NP_001336804.1:p.Ile172Val, XP_016884557.1:p.Ile323Leu, XP_016884557.1:p.Ile323Val, XP_016884564.1:p.Ile172Leu, XP_016884564.1:p.Ile172Val, NP_001381625.1:p.Ile172Leu, NP_001381625.1:p.Ile172Val, XP_047297547.1:p.Ile172Leu, XP_047297547.1:p.Ile172Val, NP_001381621.1:p.Ile323Leu, NP_001381621.1:p.Ile323Val, NP_001381622.1:p.Ile299Leu, NP_001381622.1:p.Ile299Val, NP_001381626.1:p.Ile172Leu, NP_001381626.1:p.Ile172Val, NP_001381623.1:p.Ile273Leu, NP_001381623.1:p.Ile273Val, NP_001381624.1:p.Ile297Leu, NP_001381624.1:p.Ile297Val, XP_047297545.1:p.Ile172Leu, XP_047297545.1:p.Ile172Val, XP_047297546.1:p.Ile299Leu, XP_047297546.1:p.Ile299Val

                                  17.

                                  rs1445645057 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    22:21023304 (GRCh38)
                                    22:21377593 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:21023303:CC:C
                                    Gene:
                                    P2RX6 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    -=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000022.11:g.21023305del, NC_000022.10:g.21377594del, NM_005446.5:c.669del, NM_005446.4:c.669del, NM_005446.3:c.669del, XM_011530498.3:c.669del, XM_011530498.2:c.669del, XM_011530498.1:c.669del, XM_011530499.3:c.597del, XM_011530499.2:c.597del, XM_011530499.1:c.597del, XM_011530500.3:c.591del, XM_011530500.2:c.591del, XM_011530500.1:c.591del, XR_937950.3:n.679del, XR_937950.2:n.1394del, XR_937950.1:n.1393del, XR_937952.3:n.679del, XR_937952.2:n.1392del, XR_937952.1:n.1391del, XM_011530502.3:c.669del, XM_011530502.2:c.669del, XM_011530502.1:c.669del, NM_001349874.2:c.216del, NM_001349874.1:c.216del, XM_017029074.2:c.216del, XM_017029074.1:c.216del, NM_001159554.2:c.591del, NM_001159554.1:c.591del, NM_001349875.2:c.216del, NM_001349875.1:c.216del, NM_001349876.2:c.216del, NM_001349876.1:c.216del, XM_017029068.2:c.669del, XM_017029068.1:c.669del, XM_017029066.2:c.669del, XM_017029066.1:c.669del, XM_017029075.2:c.216del, XM_017029075.1:c.216del, NM_001394696.1:c.216del, XM_047441591.1:c.216del, NM_001394691.1:c.669del, NM_001394692.1:c.669del, NM_001394693.1:c.597del, NM_001394697.1:c.216del, XM_047441587.1:c.597del, XM_047441588.1:c.591del, NM_001394694.1:c.519del, NM_001394695.1:c.591del, XM_047441589.1:c.216del, XM_047441590.1:c.597del, XR_007067990.1:n.679del, XR_007067991.1:n.607del, XR_007067992.1:n.601del, NP_005437.2:p.Tyr224fs, XP_011528800.1:p.Tyr224fs, XP_011528801.1:p.Tyr200fs, XP_011528802.1:p.Tyr198fs, XP_011528804.1:p.Tyr224fs, NP_001336803.1:p.Tyr73fs, XP_016884563.1:p.Tyr73fs, NP_001153026.1:p.Tyr198fs, NP_001336804.1:p.Tyr73fs, NP_001336805.1:p.Tyr73fs, XP_016884557.1:p.Tyr224fs, XP_016884555.1:p.Tyr224fs, XP_016884564.1:p.Tyr73fs, NP_001381625.1:p.Tyr73fs, XP_047297547.1:p.Tyr73fs, NP_001381620.1:p.Tyr224fs, NP_001381621.1:p.Tyr224fs, NP_001381622.1:p.Tyr200fs, NP_001381626.1:p.Tyr73fs, XP_047297543.1:p.Tyr200fs, XP_047297544.1:p.Tyr198fs, NP_001381623.1:p.Tyr174fs, NP_001381624.1:p.Tyr198fs, XP_047297545.1:p.Tyr73fs, XP_047297546.1:p.Tyr200fs

                                    18.

                                    rs1442791286 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      22:21023340 (GRCh38)
                                      22:21377629 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:21023339:G:
                                      Gene:
                                      P2RX6 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0.000084/1 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000022.11:g.21023340del, NC_000022.10:g.21377629del, NM_005446.5:c.704del, NM_005446.4:c.704del, NM_005446.3:c.704del, XM_011530498.3:c.704del, XM_011530498.2:c.704del, XM_011530498.1:c.704del, XM_011530499.3:c.632del, XM_011530499.2:c.632del, XM_011530499.1:c.632del, XM_011530500.3:c.626del, XM_011530500.2:c.626del, XM_011530500.1:c.626del, XR_937950.3:n.714del, XR_937950.2:n.1429del, XR_937950.1:n.1428del, XR_937952.3:n.714del, XR_937952.2:n.1427del, XR_937952.1:n.1426del, XM_011530502.3:c.704del, XM_011530502.2:c.704del, XM_011530502.1:c.704del, NM_001349874.2:c.251del, NM_001349874.1:c.251del, XM_017029074.2:c.251del, XM_017029074.1:c.251del, NM_001159554.2:c.626del, NM_001159554.1:c.626del, NM_001349875.2:c.251del, NM_001349875.1:c.251del, NM_001349876.2:c.251del, NM_001349876.1:c.251del, XM_017029068.2:c.704del, XM_017029068.1:c.704del, XM_017029066.2:c.704del, XM_017029066.1:c.704del, XM_017029075.2:c.251del, XM_017029075.1:c.251del, NM_001394696.1:c.251del, XM_047441591.1:c.251del, NM_001394691.1:c.704del, NM_001394692.1:c.704del, NM_001394693.1:c.632del, NM_001394697.1:c.251del, XM_047441587.1:c.632del, XM_047441588.1:c.626del, NM_001394694.1:c.554del, NM_001394695.1:c.626del, XM_047441589.1:c.251del, XM_047441590.1:c.632del, XR_007067990.1:n.714del, XR_007067991.1:n.642del, XR_007067992.1:n.636del, NP_005437.2:p.Ser235fs, XP_011528800.1:p.Ser235fs, XP_011528801.1:p.Ser211fs, XP_011528802.1:p.Ser209fs, XP_011528804.1:p.Ser235fs, NP_001336803.1:p.Ser84fs, XP_016884563.1:p.Ser84fs, NP_001153026.1:p.Ser209fs, NP_001336804.1:p.Ser84fs, NP_001336805.1:p.Ser84fs, XP_016884557.1:p.Ser235fs, XP_016884555.1:p.Ser235fs, XP_016884564.1:p.Ser84fs, NP_001381625.1:p.Ser84fs, XP_047297547.1:p.Ser84fs, NP_001381620.1:p.Ser235fs, NP_001381621.1:p.Ser235fs, NP_001381622.1:p.Ser211fs, NP_001381626.1:p.Ser84fs, XP_047297543.1:p.Ser211fs, XP_047297544.1:p.Ser209fs, NP_001381623.1:p.Ser185fs, NP_001381624.1:p.Ser209fs, XP_047297545.1:p.Ser84fs, XP_047297546.1:p.Ser211fs

                                      19.

                                      rs1441980037 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        22:21023010 (GRCh38)
                                        22:21377299 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:21023009:C:T
                                        Gene:
                                        P2RX6 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000022.11:g.21023010C>T, NC_000022.10:g.21377299C>T, NM_005446.5:c.532C>T, NM_005446.4:c.532C>T, NM_005446.3:c.532C>T, XM_011530498.3:c.532C>T, XM_011530498.2:c.532C>T, XM_011530498.1:c.532C>T, XM_011530499.3:c.460C>T, XM_011530499.2:c.460C>T, XM_011530499.1:c.460C>T, XM_011530500.3:c.454C>T, XM_011530500.2:c.454C>T, XM_011530500.1:c.454C>T, XR_937950.3:n.542C>T, XR_937950.2:n.1257C>T, XR_937950.1:n.1256C>T, XR_937952.3:n.542C>T, XR_937952.2:n.1255C>T, XR_937952.1:n.1254C>T, XM_011530502.3:c.532C>T, XM_011530502.2:c.532C>T, XM_011530502.1:c.532C>T, NM_001349874.2:c.79C>T, NM_001349874.1:c.79C>T, XM_017029074.2:c.79C>T, XM_017029074.1:c.79C>T, NM_001159554.2:c.454C>T, NM_001159554.1:c.454C>T, NM_001349875.2:c.79C>T, NM_001349875.1:c.79C>T, NM_001349876.2:c.79C>T, NM_001349876.1:c.79C>T, XM_017029068.2:c.532C>T, XM_017029068.1:c.532C>T, XM_017029066.2:c.532C>T, XM_017029066.1:c.532C>T, XM_017029075.2:c.79C>T, XM_017029075.1:c.79C>T, NM_001394696.1:c.79C>T, XM_047441591.1:c.79C>T, NM_001394691.1:c.532C>T, NM_001394692.1:c.532C>T, NM_001394693.1:c.460C>T, NM_001394697.1:c.79C>T, XM_047441587.1:c.460C>T, XM_047441588.1:c.454C>T, NM_001394694.1:c.382C>T, NM_001394695.1:c.454C>T, XM_047441589.1:c.79C>T, XM_047441590.1:c.460C>T, XR_007067990.1:n.542C>T, XR_007067991.1:n.470C>T, XR_007067992.1:n.464C>T, NP_005437.2:p.Pro178Ser, XP_011528800.1:p.Pro178Ser, XP_011528801.1:p.Pro154Ser, XP_011528802.1:p.Pro152Ser, XP_011528804.1:p.Pro178Ser, NP_001336803.1:p.Pro27Ser, XP_016884563.1:p.Pro27Ser, NP_001153026.1:p.Pro152Ser, NP_001336804.1:p.Pro27Ser, NP_001336805.1:p.Pro27Ser, XP_016884557.1:p.Pro178Ser, XP_016884555.1:p.Pro178Ser, XP_016884564.1:p.Pro27Ser, NP_001381625.1:p.Pro27Ser, XP_047297547.1:p.Pro27Ser, NP_001381620.1:p.Pro178Ser, NP_001381621.1:p.Pro178Ser, NP_001381622.1:p.Pro154Ser, NP_001381626.1:p.Pro27Ser, XP_047297543.1:p.Pro154Ser, XP_047297544.1:p.Pro152Ser, NP_001381623.1:p.Pro128Ser, NP_001381624.1:p.Pro152Ser, XP_047297545.1:p.Pro27Ser, XP_047297546.1:p.Pro154Ser

                                        20.

                                        rs1432870194 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          22:21023374 (GRCh38)
                                          22:21377663 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:21023373:C:T
                                          Gene:
                                          P2RX6 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000085/3 (ALFA)
                                          T=0.000008/2 (GnomAD_exomes)
                                          T=0.000029/4 (GnomAD)
                                          T=0.00003/8 (TOPMED)
                                          HGVS:
                                          NC_000022.11:g.21023374C>T, NC_000022.10:g.21377663C>T, NM_005446.5:c.738C>T, NM_005446.4:c.738C>T, NM_005446.3:c.738C>T, XM_011530498.3:c.738C>T, XM_011530498.2:c.738C>T, XM_011530498.1:c.738C>T, XM_011530499.3:c.666C>T, XM_011530499.2:c.666C>T, XM_011530499.1:c.666C>T, XM_011530500.3:c.660C>T, XM_011530500.2:c.660C>T, XM_011530500.1:c.660C>T, XR_937950.3:n.748C>T, XR_937950.2:n.1463C>T, XR_937950.1:n.1462C>T, XR_937952.3:n.748C>T, XR_937952.2:n.1461C>T, XR_937952.1:n.1460C>T, XM_011530502.3:c.738C>T, XM_011530502.2:c.738C>T, XM_011530502.1:c.738C>T, NM_001349874.2:c.285C>T, NM_001349874.1:c.285C>T, XM_017029074.2:c.285C>T, XM_017029074.1:c.285C>T, NM_001159554.2:c.660C>T, NM_001159554.1:c.660C>T, NM_001349875.2:c.285C>T, NM_001349875.1:c.285C>T, NM_001349876.2:c.285C>T, NM_001349876.1:c.285C>T, XM_017029068.2:c.738C>T, XM_017029068.1:c.738C>T, XM_017029066.2:c.738C>T, XM_017029066.1:c.738C>T, XM_017029075.2:c.285C>T, XM_017029075.1:c.285C>T, NM_001394696.1:c.285C>T, XM_047441591.1:c.285C>T, NM_001394691.1:c.738C>T, NM_001394692.1:c.738C>T, NM_001394693.1:c.666C>T, NM_001394697.1:c.285C>T, XM_047441587.1:c.666C>T, XM_047441588.1:c.660C>T, NM_001394694.1:c.588C>T, NM_001394695.1:c.660C>T, XM_047441589.1:c.285C>T, XM_047441590.1:c.666C>T, XR_007067990.1:n.748C>T, XR_007067991.1:n.676C>T, XR_007067992.1:n.670C>T

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