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Items: 1 to 20 of 417

1.

rs1487698090 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    1:71012384 (GRCh38)
    1:71478067 (GRCh37)
    Canonical SPDI:
    NC_000001.11:71012383:C:A,NC_000001.11:71012383:C:T
    Gene:
    PTGER3 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.71012384C>A, NC_000001.11:g.71012384C>T, NC_000001.10:g.71478067C>A, NC_000001.10:g.71478067C>T, NG_029509.2:g.40425G>T, NG_029509.2:g.40425G>A, NM_198715.3:c.998G>T, NM_198715.3:c.998G>A, NM_198715.2:c.998G>T, NM_198715.2:c.998G>A, NM_198719.2:c.998G>T, NM_198719.2:c.998G>A, NM_198719.1:c.998G>T, NM_198719.1:c.998G>A, NR_028294.2:n.1237G>T, NR_028294.2:n.1237G>A, NR_028294.1:n.1229G>T, NR_028294.1:n.1229G>A, NM_001126044.2:c.998G>T, NM_001126044.2:c.998G>A, NM_001126044.1:c.998G>T, NM_001126044.1:c.998G>A, NR_028292.2:n.1237G>T, NR_028292.2:n.1237G>A, NR_028292.1:n.1229G>T, NR_028292.1:n.1229G>A, NR_028293.2:n.1237G>T, NR_028293.2:n.1237G>A, NR_028293.1:n.1229G>T, NR_028293.1:n.1229G>A, NM_198718.2:c.998G>T, NM_198718.2:c.998G>A, NM_198718.1:c.998G>T, NM_198718.1:c.998G>A, NM_198714.2:c.998G>T, NM_198714.2:c.998G>A, NM_198714.1:c.998G>T, NM_198714.1:c.998G>A, NM_198716.2:c.998G>T, NM_198716.2:c.998G>A, NM_198716.1:c.998G>T, NM_198716.1:c.998G>A, NM_198717.2:c.998G>T, NM_198717.2:c.998G>A, NM_198717.1:c.998G>T, NM_198717.1:c.998G>A, XM_011541810.4:c.998G>T, XM_011541810.4:c.998G>A, XM_011541810.3:c.998G>T, XM_011541810.3:c.998G>A, XM_011541810.2:c.998G>T, XM_011541810.2:c.998G>A, XM_011541810.1:c.998G>T, XM_011541810.1:c.998G>A, XR_946714.3:n.1237G>T, XR_946714.3:n.1237G>A, XR_946714.2:n.1229G>T, XR_946714.2:n.1229G>A, XR_946714.1:n.1235G>T, XR_946714.1:n.1235G>A, NM_000957.2:c.998G>T, NM_000957.2:c.998G>A, NM_198712.2:c.998G>T, NM_198712.2:c.998G>A, NM_198712.1:c.998G>T, NM_198712.1:c.998G>A, NM_198713.1:c.998G>T, NM_198713.1:c.998G>A, NM_000957.1:c.998G>T, NM_000957.1:c.998G>A, NP_942008.1:p.Arg333Leu, NP_942008.1:p.Arg333His, NP_942012.1:p.Arg333Leu, NP_942012.1:p.Arg333His, NP_001119516.1:p.Arg333Leu, NP_001119516.1:p.Arg333His, NP_942011.1:p.Arg333Leu, NP_942011.1:p.Arg333His, NP_942007.1:p.Arg333Leu, NP_942007.1:p.Arg333His, NP_942009.1:p.Arg333Leu, NP_942009.1:p.Arg333His, NP_942010.1:p.Arg333Leu, NP_942010.1:p.Arg333His, XP_011540112.1:p.Arg333Leu, XP_011540112.1:p.Arg333His
    2.

    rs1484658630 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      1:71047354 (GRCh38)
      1:71513037 (GRCh37)
      Canonical SPDI:
      NC_000001.11:71047353:C:A,NC_000001.11:71047353:C:T
      Gene:
      PTGER3 (Varview), ZRANB2-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.71047354C>A, NC_000001.11:g.71047354C>T, NC_000001.10:g.71513037C>A, NC_000001.10:g.71513037C>T, NG_029509.2:g.5455G>T, NG_029509.2:g.5455G>A, NM_198715.3:c.224G>T, NM_198715.3:c.224G>A, NM_198715.2:c.224G>T, NM_198715.2:c.224G>A, NM_198719.2:c.224G>T, NM_198719.2:c.224G>A, NM_198719.1:c.224G>T, NM_198719.1:c.224G>A, NR_028294.2:n.463G>T, NR_028294.2:n.463G>A, NR_028294.1:n.455G>T, NR_028294.1:n.455G>A, NM_001126044.2:c.224G>T, NM_001126044.2:c.224G>A, NM_001126044.1:c.224G>T, NM_001126044.1:c.224G>A, NR_028292.2:n.463G>T, NR_028292.2:n.463G>A, NR_028292.1:n.455G>T, NR_028292.1:n.455G>A, NR_028293.2:n.463G>T, NR_028293.2:n.463G>A, NR_028293.1:n.455G>T, NR_028293.1:n.455G>A, NM_198718.2:c.224G>T, NM_198718.2:c.224G>A, NM_198718.1:c.224G>T, NM_198718.1:c.224G>A, NM_198714.2:c.224G>T, NM_198714.2:c.224G>A, NM_198714.1:c.224G>T, NM_198714.1:c.224G>A, NM_198716.2:c.224G>T, NM_198716.2:c.224G>A, NM_198716.1:c.224G>T, NM_198716.1:c.224G>A, NM_198717.2:c.224G>T, NM_198717.2:c.224G>A, NM_198717.1:c.224G>T, NM_198717.1:c.224G>A, XM_011541810.4:c.224G>T, XM_011541810.4:c.224G>A, XM_011541810.3:c.224G>T, XM_011541810.3:c.224G>A, XM_011541810.2:c.224G>T, XM_011541810.2:c.224G>A, XM_011541810.1:c.224G>T, XM_011541810.1:c.224G>A, XR_946714.3:n.463G>T, XR_946714.3:n.463G>A, XR_946714.2:n.455G>T, XR_946714.2:n.455G>A, XR_946714.1:n.461G>T, XR_946714.1:n.461G>A, NM_000957.2:c.224G>T, NM_000957.2:c.224G>A, NM_198712.2:c.224G>T, NM_198712.2:c.224G>A, NM_198712.1:c.224G>T, NM_198712.1:c.224G>A, NM_198713.1:c.224G>T, NM_198713.1:c.224G>A, NM_000957.1:c.224G>T, NM_000957.1:c.224G>A, NR_038420.1:n.849C>A, NR_038420.1:n.849C>T, NP_942008.1:p.Arg75Leu, NP_942008.1:p.Arg75His, NP_942012.1:p.Arg75Leu, NP_942012.1:p.Arg75His, NP_001119516.1:p.Arg75Leu, NP_001119516.1:p.Arg75His, NP_942011.1:p.Arg75Leu, NP_942011.1:p.Arg75His, NP_942007.1:p.Arg75Leu, NP_942007.1:p.Arg75His, NP_942009.1:p.Arg75Leu, NP_942009.1:p.Arg75His, NP_942010.1:p.Arg75Leu, NP_942010.1:p.Arg75His, XP_011540112.1:p.Arg75Leu, XP_011540112.1:p.Arg75His
      8.

      rs1474081811 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        1:71047301 (GRCh38)
        1:71512984 (GRCh37)
        Canonical SPDI:
        NC_000001.11:71047300:C:G,NC_000001.11:71047300:C:T
        Gene:
        PTGER3 (Varview), ZRANB2-AS1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000028/1 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        G=0.000011/3 (TOPMED)
        G=0.000029/4 (GnomAD)
        HGVS:
        NC_000001.11:g.71047301C>G, NC_000001.11:g.71047301C>T, NC_000001.10:g.71512984C>G, NC_000001.10:g.71512984C>T, NG_029509.2:g.5508G>C, NG_029509.2:g.5508G>A, NM_198715.3:c.277G>C, NM_198715.3:c.277G>A, NM_198715.2:c.277G>C, NM_198715.2:c.277G>A, NM_198719.2:c.277G>C, NM_198719.2:c.277G>A, NM_198719.1:c.277G>C, NM_198719.1:c.277G>A, NR_028294.2:n.516G>C, NR_028294.2:n.516G>A, NR_028294.1:n.508G>C, NR_028294.1:n.508G>A, NM_001126044.2:c.277G>C, NM_001126044.2:c.277G>A, NM_001126044.1:c.277G>C, NM_001126044.1:c.277G>A, NR_028292.2:n.516G>C, NR_028292.2:n.516G>A, NR_028292.1:n.508G>C, NR_028292.1:n.508G>A, NR_028293.2:n.516G>C, NR_028293.2:n.516G>A, NR_028293.1:n.508G>C, NR_028293.1:n.508G>A, NM_198718.2:c.277G>C, NM_198718.2:c.277G>A, NM_198718.1:c.277G>C, NM_198718.1:c.277G>A, NM_198714.2:c.277G>C, NM_198714.2:c.277G>A, NM_198714.1:c.277G>C, NM_198714.1:c.277G>A, NM_198716.2:c.277G>C, NM_198716.2:c.277G>A, NM_198716.1:c.277G>C, NM_198716.1:c.277G>A, NM_198717.2:c.277G>C, NM_198717.2:c.277G>A, NM_198717.1:c.277G>C, NM_198717.1:c.277G>A, XM_011541810.4:c.277G>C, XM_011541810.4:c.277G>A, XM_011541810.3:c.277G>C, XM_011541810.3:c.277G>A, XM_011541810.2:c.277G>C, XM_011541810.2:c.277G>A, XM_011541810.1:c.277G>C, XM_011541810.1:c.277G>A, XR_946714.3:n.516G>C, XR_946714.3:n.516G>A, XR_946714.2:n.508G>C, XR_946714.2:n.508G>A, XR_946714.1:n.514G>C, XR_946714.1:n.514G>A, NM_000957.2:c.277G>C, NM_000957.2:c.277G>A, NM_198712.2:c.277G>C, NM_198712.2:c.277G>A, NM_198712.1:c.277G>C, NM_198712.1:c.277G>A, NM_198713.1:c.277G>C, NM_198713.1:c.277G>A, NM_000957.1:c.277G>C, NM_000957.1:c.277G>A, NR_038420.1:n.796C>G, NR_038420.1:n.796C>T, NP_942008.1:p.Gly93Arg, NP_942008.1:p.Gly93Ser, NP_942012.1:p.Gly93Arg, NP_942012.1:p.Gly93Ser, NP_001119516.1:p.Gly93Arg, NP_001119516.1:p.Gly93Ser, NP_942011.1:p.Gly93Arg, NP_942011.1:p.Gly93Ser, NP_942007.1:p.Gly93Arg, NP_942007.1:p.Gly93Ser, NP_942009.1:p.Gly93Arg, NP_942009.1:p.Gly93Ser, NP_942010.1:p.Gly93Arg, NP_942010.1:p.Gly93Ser, XP_011540112.1:p.Gly93Arg, XP_011540112.1:p.Gly93Ser
        13.

        rs1463660106 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:70974345 (GRCh38)
          1:71440028 (GRCh37)
          Canonical SPDI:
          NC_000001.11:70974344:A:G
          Gene:
          PTGER3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000031/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          HGVS:
          17.

          rs1460287641 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,G [Show Flanks]
            Chromosome:
            1:71047013 (GRCh38)
            1:71512696 (GRCh37)
            Canonical SPDI:
            NC_000001.11:71047012:C:A,NC_000001.11:71047012:C:G
            Gene:
            PTGER3 (Varview), ZRANB2-AS1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.71047013C>A, NC_000001.11:g.71047013C>G, NC_000001.10:g.71512696C>A, NC_000001.10:g.71512696C>G, NG_029509.2:g.5796G>T, NG_029509.2:g.5796G>C, NM_198715.3:c.565G>T, NM_198715.3:c.565G>C, NM_198715.2:c.565G>T, NM_198715.2:c.565G>C, NM_198719.2:c.565G>T, NM_198719.2:c.565G>C, NM_198719.1:c.565G>T, NM_198719.1:c.565G>C, NR_028294.2:n.804G>T, NR_028294.2:n.804G>C, NR_028294.1:n.796G>T, NR_028294.1:n.796G>C, NM_001126044.2:c.565G>T, NM_001126044.2:c.565G>C, NM_001126044.1:c.565G>T, NM_001126044.1:c.565G>C, NR_028292.2:n.804G>T, NR_028292.2:n.804G>C, NR_028292.1:n.796G>T, NR_028292.1:n.796G>C, NR_028293.2:n.804G>T, NR_028293.2:n.804G>C, NR_028293.1:n.796G>T, NR_028293.1:n.796G>C, NM_198718.2:c.565G>T, NM_198718.2:c.565G>C, NM_198718.1:c.565G>T, NM_198718.1:c.565G>C, NM_198714.2:c.565G>T, NM_198714.2:c.565G>C, NM_198714.1:c.565G>T, NM_198714.1:c.565G>C, NM_198716.2:c.565G>T, NM_198716.2:c.565G>C, NM_198716.1:c.565G>T, NM_198716.1:c.565G>C, NM_198717.2:c.565G>T, NM_198717.2:c.565G>C, NM_198717.1:c.565G>T, NM_198717.1:c.565G>C, XM_011541810.4:c.565G>T, XM_011541810.4:c.565G>C, XM_011541810.3:c.565G>T, XM_011541810.3:c.565G>C, XM_011541810.2:c.565G>T, XM_011541810.2:c.565G>C, XM_011541810.1:c.565G>T, XM_011541810.1:c.565G>C, XR_946714.3:n.804G>T, XR_946714.3:n.804G>C, XR_946714.2:n.796G>T, XR_946714.2:n.796G>C, XR_946714.1:n.802G>T, XR_946714.1:n.802G>C, NM_000957.2:c.565G>T, NM_000957.2:c.565G>C, NM_198712.2:c.565G>T, NM_198712.2:c.565G>C, NM_198712.1:c.565G>T, NM_198712.1:c.565G>C, NM_198713.1:c.565G>T, NM_198713.1:c.565G>C, NM_000957.1:c.565G>T, NM_000957.1:c.565G>C, NR_038420.1:n.508C>A, NR_038420.1:n.508C>G, NP_942008.1:p.Ala189Ser, NP_942008.1:p.Ala189Pro, NP_942012.1:p.Ala189Ser, NP_942012.1:p.Ala189Pro, NP_001119516.1:p.Ala189Ser, NP_001119516.1:p.Ala189Pro, NP_942011.1:p.Ala189Ser, NP_942011.1:p.Ala189Pro, NP_942007.1:p.Ala189Ser, NP_942007.1:p.Ala189Pro, NP_942009.1:p.Ala189Ser, NP_942009.1:p.Ala189Pro, NP_942010.1:p.Ala189Ser, NP_942010.1:p.Ala189Pro, XP_011540112.1:p.Ala189Ser, XP_011540112.1:p.Ala189Pro
            20.

            rs1451936745 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              1:71046846 (GRCh38)
              1:71512529 (GRCh37)
              Canonical SPDI:
              NC_000001.11:71046845:G:A,NC_000001.11:71046845:G:T
              Gene:
              PTGER3 (Varview), ZRANB2-AS1 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.00003/1 (ALFA)
              HGVS:
              NC_000001.11:g.71046846G>A, NC_000001.11:g.71046846G>T, NC_000001.10:g.71512529G>A, NC_000001.10:g.71512529G>T, NG_029509.2:g.5963C>T, NG_029509.2:g.5963C>A, NM_198715.3:c.732C>T, NM_198715.3:c.732C>A, NM_198715.2:c.732C>T, NM_198715.2:c.732C>A, NM_198719.2:c.732C>T, NM_198719.2:c.732C>A, NM_198719.1:c.732C>T, NM_198719.1:c.732C>A, NR_028294.2:n.971C>T, NR_028294.2:n.971C>A, NR_028294.1:n.963C>T, NR_028294.1:n.963C>A, NM_001126044.2:c.732C>T, NM_001126044.2:c.732C>A, NM_001126044.1:c.732C>T, NM_001126044.1:c.732C>A, NR_028292.2:n.971C>T, NR_028292.2:n.971C>A, NR_028292.1:n.963C>T, NR_028292.1:n.963C>A, NR_028293.2:n.971C>T, NR_028293.2:n.971C>A, NR_028293.1:n.963C>T, NR_028293.1:n.963C>A, NM_198718.2:c.732C>T, NM_198718.2:c.732C>A, NM_198718.1:c.732C>T, NM_198718.1:c.732C>A, NM_198714.2:c.732C>T, NM_198714.2:c.732C>A, NM_198714.1:c.732C>T, NM_198714.1:c.732C>A, NM_198716.2:c.732C>T, NM_198716.2:c.732C>A, NM_198716.1:c.732C>T, NM_198716.1:c.732C>A, NM_198717.2:c.732C>T, NM_198717.2:c.732C>A, NM_198717.1:c.732C>T, NM_198717.1:c.732C>A, XM_011541810.4:c.732C>T, XM_011541810.4:c.732C>A, XM_011541810.3:c.732C>T, XM_011541810.3:c.732C>A, XM_011541810.2:c.732C>T, XM_011541810.2:c.732C>A, XM_011541810.1:c.732C>T, XM_011541810.1:c.732C>A, XR_946714.3:n.971C>T, XR_946714.3:n.971C>A, XR_946714.2:n.963C>T, XR_946714.2:n.963C>A, XR_946714.1:n.969C>T, XR_946714.1:n.969C>A, NM_000957.2:c.732C>T, NM_000957.2:c.732C>A, NM_198712.2:c.732C>T, NM_198712.2:c.732C>A, NM_198712.1:c.732C>T, NM_198712.1:c.732C>A, NM_198713.1:c.732C>T, NM_198713.1:c.732C>A, NM_000957.1:c.732C>T, NM_000957.1:c.732C>A, NR_038420.1:n.341G>A, NR_038420.1:n.341G>T

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