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Items: 1 to 20 of 92

1.

rs1461962887 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    1:44308336 (GRCh38)
    1:44774008 (GRCh37)
    Canonical SPDI:
    NC_000001.11:44308335:G:T
    Gene:
    ERI3 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1439055030 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      1:44319653 (GRCh38)
      1:44785325 (GRCh37)
      Canonical SPDI:
      NC_000001.11:44319652:G:C
      Gene:
      ERI3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.44319653G>C, NC_000001.10:g.44785325G>C, NM_024066.3:c.581C>G, NM_024066.2:c.581C>G, NM_024066.1:c.581C>G, XM_005271186.3:c.581C>G, XM_005271186.2:c.581C>G, XM_005271186.1:c.581C>G, XM_017002303.3:c.347C>G, XM_017002303.2:c.347C>G, XM_017002303.1:c.347C>G, XM_017002304.3:c.227C>G, XM_017002304.2:c.227C>G, XM_017002304.1:c.227C>G, XM_017002301.2:c.575C>G, XM_017002301.1:c.575C>G, NM_001301698.2:c.347C>G, NM_001301698.1:c.347C>G, XM_024449712.2:c.347C>G, XM_024449712.1:c.347C>G, XM_017002302.2:c.347C>G, XM_017002302.1:c.347C>G, XM_017002305.2:c.50C>G, XM_017002305.1:c.50C>G, XM_047430146.1:c.494C>G, XM_047430139.1:c.635C>G, NM_001301699.1:c.347C>G, XM_047430144.1:c.347C>G, NM_001301700.1:c.347C>G, XM_047430152.1:c.347C>G, NM_001301701.1:c.50C>G, NP_076971.1:p.Pro194Arg, XP_005271243.1:p.Pro194Arg, XP_016857792.1:p.Pro116Arg, XP_016857793.1:p.Pro76Arg, XP_016857790.1:p.Pro192Arg, NP_001288627.1:p.Pro116Arg, XP_024305480.1:p.Pro116Arg, XP_016857791.1:p.Pro116Arg, XP_016857794.1:p.Pro17Arg, XP_047286102.1:p.Pro165Arg, XP_047286095.1:p.Pro212Arg, NP_001288628.1:p.Pro116Arg, XP_047286100.1:p.Pro116Arg, NP_001288629.1:p.Pro116Arg, XP_047286108.1:p.Pro116Arg, NP_001288630.1:p.Pro17Arg

      3.

      rs1431719220 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:44284853 (GRCh38)
        1:44750525 (GRCh37)
        Canonical SPDI:
        NC_000001.11:44284852:C:T
        Gene:
        ERI3 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1409996204 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          1:44319633 (GRCh38)
          1:44785305 (GRCh37)
          Canonical SPDI:
          NC_000001.11:44319632:T:A
          Gene:
          ERI3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.44319633T>A, NC_000001.10:g.44785305T>A, NM_024066.3:c.601A>T, NM_024066.2:c.601A>T, NM_024066.1:c.601A>T, XM_005271186.3:c.601A>T, XM_005271186.2:c.601A>T, XM_005271186.1:c.601A>T, XM_017002303.3:c.367A>T, XM_017002303.2:c.367A>T, XM_017002303.1:c.367A>T, XM_017002304.3:c.247A>T, XM_017002304.2:c.247A>T, XM_017002304.1:c.247A>T, XM_017002301.2:c.595A>T, XM_017002301.1:c.595A>T, NM_001301698.2:c.367A>T, NM_001301698.1:c.367A>T, XM_024449712.2:c.367A>T, XM_024449712.1:c.367A>T, XM_017002302.2:c.367A>T, XM_017002302.1:c.367A>T, XM_017002305.2:c.70A>T, XM_017002305.1:c.70A>T, XM_047430146.1:c.514A>T, XM_047430139.1:c.655A>T, NM_001301699.1:c.367A>T, XM_047430144.1:c.367A>T, NM_001301700.1:c.367A>T, XM_047430152.1:c.367A>T, NM_001301701.1:c.70A>T, NP_076971.1:p.Thr201Ser, XP_005271243.1:p.Thr201Ser, XP_016857792.1:p.Thr123Ser, XP_016857793.1:p.Thr83Ser, XP_016857790.1:p.Thr199Ser, NP_001288627.1:p.Thr123Ser, XP_024305480.1:p.Thr123Ser, XP_016857791.1:p.Thr123Ser, XP_016857794.1:p.Thr24Ser, XP_047286102.1:p.Thr172Ser, XP_047286095.1:p.Thr219Ser, NP_001288628.1:p.Thr123Ser, XP_047286100.1:p.Thr123Ser, NP_001288629.1:p.Thr123Ser, XP_047286108.1:p.Thr123Ser, NP_001288630.1:p.Thr24Ser

          5.

          rs1406568845 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:44248027 (GRCh38)
            1:44713699 (GRCh37)
            Canonical SPDI:
            NC_000001.11:44248026:G:A
            Gene:
            ERI3 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1406405056 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:44248018 (GRCh38)
              1:44713690 (GRCh37)
              Canonical SPDI:
              NC_000001.11:44248017:G:A
              Gene:
              ERI3 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              A=0.000035/1 (TOMMO)
              HGVS:

              7.

              rs1396209957 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:44221624 (GRCh38)
                1:44687296 (GRCh37)
                Canonical SPDI:
                NC_000001.11:44221623:A:G
                Gene:
                ERI3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000038/10 (TOPMED)
                HGVS:
                NC_000001.11:g.44221624A>G, NC_000001.10:g.44687296A>G, NM_024066.3:c.948T>C, NM_024066.2:c.948T>C, NM_024066.1:c.948T>C, XM_005271186.3:c.848T>C, XM_005271186.2:c.848T>C, XM_005271186.1:c.848T>C, XM_017002303.3:c.714T>C, XM_017002303.2:c.714T>C, XM_017002303.1:c.714T>C, XM_017002304.3:c.594T>C, XM_017002304.2:c.594T>C, XM_017002304.1:c.594T>C, XM_017002301.2:c.942T>C, XM_017002301.1:c.942T>C, NM_001301698.2:c.714T>C, NM_001301698.1:c.714T>C, XM_024449712.2:c.714T>C, XM_024449712.1:c.714T>C, XM_017002302.2:c.614T>C, XM_017002302.1:c.614T>C, XM_017002305.2:c.417T>C, XM_017002305.1:c.417T>C, XM_047430146.1:c.861T>C, XM_047430139.1:c.1002T>C, NM_001301699.1:c.714T>C, XM_047430144.1:c.714T>C, NM_001301700.1:c.614T>C, XM_047430152.1:c.614T>C, NM_001301701.1:c.417T>C, XP_005271243.1:p.Leu283Ser, XP_016857791.1:p.Leu205Ser, NP_001288629.1:p.Leu205Ser, XP_047286108.1:p.Leu205Ser

                8.

                rs1380030584 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  1:44308373 (GRCh38)
                  1:44774045 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:44308372:C:G,NC_000001.11:44308372:C:T
                  Gene:
                  ERI3 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.44308373C>G, NC_000001.11:g.44308373C>T, NC_000001.10:g.44774045C>G, NC_000001.10:g.44774045C>T, NM_024066.3:c.695G>C, NM_024066.3:c.695G>A, NM_024066.2:c.695G>C, NM_024066.2:c.695G>A, NM_024066.1:c.695G>C, NM_024066.1:c.695G>A, XM_005271186.3:c.695G>C, XM_005271186.3:c.695G>A, XM_005271186.2:c.695G>C, XM_005271186.2:c.695G>A, XM_005271186.1:c.695G>C, XM_005271186.1:c.695G>A, XM_017002303.3:c.461G>C, XM_017002303.3:c.461G>A, XM_017002303.2:c.461G>C, XM_017002303.2:c.461G>A, XM_017002303.1:c.461G>C, XM_017002303.1:c.461G>A, XM_017002304.3:c.341G>C, XM_017002304.3:c.341G>A, XM_017002304.2:c.341G>C, XM_017002304.2:c.341G>A, XM_017002304.1:c.341G>C, XM_017002304.1:c.341G>A, XM_017002301.2:c.689G>C, XM_017002301.2:c.689G>A, XM_017002301.1:c.689G>C, XM_017002301.1:c.689G>A, NM_001301698.2:c.461G>C, NM_001301698.2:c.461G>A, NM_001301698.1:c.461G>C, NM_001301698.1:c.461G>A, XM_024449712.2:c.461G>C, XM_024449712.2:c.461G>A, XM_024449712.1:c.461G>C, XM_024449712.1:c.461G>A, XM_017002302.2:c.461G>C, XM_017002302.2:c.461G>A, XM_017002302.1:c.461G>C, XM_017002302.1:c.461G>A, XM_017002305.2:c.164G>C, XM_017002305.2:c.164G>A, XM_017002305.1:c.164G>C, XM_017002305.1:c.164G>A, XM_047430146.1:c.608G>C, XM_047430146.1:c.608G>A, XM_047430139.1:c.749G>C, XM_047430139.1:c.749G>A, NM_001301699.1:c.461G>C, NM_001301699.1:c.461G>A, XM_047430144.1:c.461G>C, XM_047430144.1:c.461G>A, NM_001301700.1:c.461G>C, NM_001301700.1:c.461G>A, XM_047430152.1:c.461G>C, XM_047430152.1:c.461G>A, NM_001301701.1:c.164G>C, NM_001301701.1:c.164G>A, NP_076971.1:p.Gly232Ala, NP_076971.1:p.Gly232Asp, XP_005271243.1:p.Gly232Ala, XP_005271243.1:p.Gly232Asp, XP_016857792.1:p.Gly154Ala, XP_016857792.1:p.Gly154Asp, XP_016857793.1:p.Gly114Ala, XP_016857793.1:p.Gly114Asp, XP_016857790.1:p.Gly230Ala, XP_016857790.1:p.Gly230Asp, NP_001288627.1:p.Gly154Ala, NP_001288627.1:p.Gly154Asp, XP_024305480.1:p.Gly154Ala, XP_024305480.1:p.Gly154Asp, XP_016857791.1:p.Gly154Ala, XP_016857791.1:p.Gly154Asp, XP_016857794.1:p.Gly55Ala, XP_016857794.1:p.Gly55Asp, XP_047286102.1:p.Gly203Ala, XP_047286102.1:p.Gly203Asp, XP_047286095.1:p.Gly250Ala, XP_047286095.1:p.Gly250Asp, NP_001288628.1:p.Gly154Ala, NP_001288628.1:p.Gly154Asp, XP_047286100.1:p.Gly154Ala, XP_047286100.1:p.Gly154Asp, NP_001288629.1:p.Gly154Ala, NP_001288629.1:p.Gly154Asp, XP_047286108.1:p.Gly154Ala, XP_047286108.1:p.Gly154Asp, NP_001288630.1:p.Gly55Ala, NP_001288630.1:p.Gly55Asp

                  9.

                  rs1375626762 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    1:44313225 (GRCh38)
                    1:44778897 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:44313224:T:A
                    Gene:
                    ERI3 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.44313225T>A, NC_000001.10:g.44778897T>A, NM_024066.3:c.610A>T, NM_024066.2:c.610A>T, NM_024066.1:c.610A>T, XM_005271186.3:c.610A>T, XM_005271186.2:c.610A>T, XM_005271186.1:c.610A>T, XM_017002303.3:c.376A>T, XM_017002303.2:c.376A>T, XM_017002303.1:c.376A>T, XM_017002304.3:c.256A>T, XM_017002304.2:c.256A>T, XM_017002304.1:c.256A>T, XM_017002301.2:c.604A>T, XM_017002301.1:c.604A>T, NM_001301698.2:c.376A>T, NM_001301698.1:c.376A>T, XM_024449712.2:c.376A>T, XM_024449712.1:c.376A>T, XM_017002302.2:c.376A>T, XM_017002302.1:c.376A>T, XM_017002305.2:c.79A>T, XM_017002305.1:c.79A>T, XM_047430146.1:c.523A>T, XM_047430139.1:c.664A>T, NM_001301699.1:c.376A>T, XM_047430144.1:c.376A>T, NM_001301700.1:c.376A>T, XM_047430152.1:c.376A>T, NM_001301701.1:c.79A>T, NP_076971.1:p.Thr204Ser, XP_005271243.1:p.Thr204Ser, XP_016857792.1:p.Thr126Ser, XP_016857793.1:p.Thr86Ser, XP_016857790.1:p.Thr202Ser, NP_001288627.1:p.Thr126Ser, XP_024305480.1:p.Thr126Ser, XP_016857791.1:p.Thr126Ser, XP_016857794.1:p.Thr27Ser, XP_047286102.1:p.Thr175Ser, XP_047286095.1:p.Thr222Ser, NP_001288628.1:p.Thr126Ser, XP_047286100.1:p.Thr126Ser, NP_001288629.1:p.Thr126Ser, XP_047286108.1:p.Thr126Ser, NP_001288630.1:p.Thr27Ser

                    10.

                    rs1373813278 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:44284849 (GRCh38)
                      1:44750521 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:44284848:T:C
                      Gene:
                      ERI3 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000111/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.001092/2 (Korea1K)
                      HGVS:
                      NC_000001.11:g.44284849T>C, NC_000001.10:g.44750521T>C, NM_024066.3:c.817A>G, NM_024066.2:c.817A>G, NM_024066.1:c.817A>G, XM_005271186.3:c.817A>G, XM_005271186.2:c.817A>G, XM_005271186.1:c.817A>G, XM_017002303.3:c.583A>G, XM_017002303.2:c.583A>G, XM_017002303.1:c.583A>G, XM_017002304.3:c.463A>G, XM_017002304.2:c.463A>G, XM_017002304.1:c.463A>G, XM_017002301.2:c.811A>G, XM_017002301.1:c.811A>G, NM_001301698.2:c.583A>G, NM_001301698.1:c.583A>G, XM_024449712.2:c.583A>G, XM_024449712.1:c.583A>G, XM_017002302.2:c.583A>G, XM_017002302.1:c.583A>G, XM_017002305.2:c.286A>G, XM_017002305.1:c.286A>G, XM_047430146.1:c.730A>G, XM_047430139.1:c.871A>G, NM_001301699.1:c.583A>G, XM_047430144.1:c.583A>G, NM_001301700.1:c.583A>G, XM_047430152.1:c.583A>G, NM_001301701.1:c.286A>G, NP_076971.1:p.Ile273Val, XP_005271243.1:p.Ile273Val, XP_016857792.1:p.Ile195Val, XP_016857793.1:p.Ile155Val, XP_016857790.1:p.Ile271Val, NP_001288627.1:p.Ile195Val, XP_024305480.1:p.Ile195Val, XP_016857791.1:p.Ile195Val, XP_016857794.1:p.Ile96Val, XP_047286102.1:p.Ile244Val, XP_047286095.1:p.Ile291Val, NP_001288628.1:p.Ile195Val, XP_047286100.1:p.Ile195Val, NP_001288629.1:p.Ile195Val, XP_047286108.1:p.Ile195Val, NP_001288630.1:p.Ile96Val

                      11.

                      rs1370128226 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:44308330 (GRCh38)
                        1:44774002 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:44308329:T:C
                        Gene:
                        ERI3 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1348321412 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:44313201 (GRCh38)
                          1:44778873 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:44313200:C:T
                          Gene:
                          ERI3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.44313201C>T, NC_000001.10:g.44778873C>T, NM_024066.3:c.634G>A, NM_024066.2:c.634G>A, NM_024066.1:c.634G>A, XM_005271186.3:c.634G>A, XM_005271186.2:c.634G>A, XM_005271186.1:c.634G>A, XM_017002303.3:c.400G>A, XM_017002303.2:c.400G>A, XM_017002303.1:c.400G>A, XM_017002304.3:c.280G>A, XM_017002304.2:c.280G>A, XM_017002304.1:c.280G>A, XM_017002301.2:c.628G>A, XM_017002301.1:c.628G>A, NM_001301698.2:c.400G>A, NM_001301698.1:c.400G>A, XM_024449712.2:c.400G>A, XM_024449712.1:c.400G>A, XM_017002302.2:c.400G>A, XM_017002302.1:c.400G>A, XM_017002305.2:c.103G>A, XM_017002305.1:c.103G>A, XM_047430146.1:c.547G>A, XM_047430139.1:c.688G>A, NM_001301699.1:c.400G>A, XM_047430144.1:c.400G>A, NM_001301700.1:c.400G>A, XM_047430152.1:c.400G>A, NM_001301701.1:c.103G>A, NP_076971.1:p.Asp212Asn, XP_005271243.1:p.Asp212Asn, XP_016857792.1:p.Asp134Asn, XP_016857793.1:p.Asp94Asn, XP_016857790.1:p.Asp210Asn, NP_001288627.1:p.Asp134Asn, XP_024305480.1:p.Asp134Asn, XP_016857791.1:p.Asp134Asn, XP_016857794.1:p.Asp35Asn, XP_047286102.1:p.Asp183Asn, XP_047286095.1:p.Asp230Asn, NP_001288628.1:p.Asp134Asn, XP_047286100.1:p.Asp134Asn, NP_001288629.1:p.Asp134Asn, XP_047286108.1:p.Asp134Asn, NP_001288630.1:p.Asp35Asn

                          13.

                          rs1345228203 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            1:44284887 (GRCh38)
                            1:44750559 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:44284886:T:G
                            Gene:
                            ERI3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.44284887T>G, NC_000001.10:g.44750559T>G, NM_024066.3:c.779A>C, NM_024066.2:c.779A>C, NM_024066.1:c.779A>C, XM_005271186.3:c.779A>C, XM_005271186.2:c.779A>C, XM_005271186.1:c.779A>C, XM_017002303.3:c.545A>C, XM_017002303.2:c.545A>C, XM_017002303.1:c.545A>C, XM_017002304.3:c.425A>C, XM_017002304.2:c.425A>C, XM_017002304.1:c.425A>C, XM_017002301.2:c.773A>C, XM_017002301.1:c.773A>C, NM_001301698.2:c.545A>C, NM_001301698.1:c.545A>C, XM_024449712.2:c.545A>C, XM_024449712.1:c.545A>C, XM_017002302.2:c.545A>C, XM_017002302.1:c.545A>C, XM_017002305.2:c.248A>C, XM_017002305.1:c.248A>C, XM_047430146.1:c.692A>C, XM_047430139.1:c.833A>C, NM_001301699.1:c.545A>C, XM_047430144.1:c.545A>C, NM_001301700.1:c.545A>C, XM_047430152.1:c.545A>C, NM_001301701.1:c.248A>C, NP_076971.1:p.Tyr260Ser, XP_005271243.1:p.Tyr260Ser, XP_016857792.1:p.Tyr182Ser, XP_016857793.1:p.Tyr142Ser, XP_016857790.1:p.Tyr258Ser, NP_001288627.1:p.Tyr182Ser, XP_024305480.1:p.Tyr182Ser, XP_016857791.1:p.Tyr182Ser, XP_016857794.1:p.Tyr83Ser, XP_047286102.1:p.Tyr231Ser, XP_047286095.1:p.Tyr278Ser, NP_001288628.1:p.Tyr182Ser, XP_047286100.1:p.Tyr182Ser, NP_001288629.1:p.Tyr182Ser, XP_047286108.1:p.Tyr182Ser, NP_001288630.1:p.Tyr83Ser

                            14.

                            rs1339791938 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:44247964 (GRCh38)
                              1:44713636 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:44247963:G:A
                              Gene:
                              ERI3 (Varview)
                              Functional Consequence:
                              intron_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1332653054 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:44284874 (GRCh38)
                                1:44750546 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:44284873:T:C
                                Gene:
                                ERI3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1330672738 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:44313216 (GRCh38)
                                  1:44778888 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:44313215:T:C
                                  Gene:
                                  ERI3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000087/2 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000019/5 (TOPMED)
                                  C=0.000043/6 (GnomAD)
                                  C=0.00006/1 (TOMMO)
                                  HGVS:
                                  NC_000001.11:g.44313216T>C, NC_000001.10:g.44778888T>C, NM_024066.3:c.619A>G, NM_024066.2:c.619A>G, NM_024066.1:c.619A>G, XM_005271186.3:c.619A>G, XM_005271186.2:c.619A>G, XM_005271186.1:c.619A>G, XM_017002303.3:c.385A>G, XM_017002303.2:c.385A>G, XM_017002303.1:c.385A>G, XM_017002304.3:c.265A>G, XM_017002304.2:c.265A>G, XM_017002304.1:c.265A>G, XM_017002301.2:c.613A>G, XM_017002301.1:c.613A>G, NM_001301698.2:c.385A>G, NM_001301698.1:c.385A>G, XM_024449712.2:c.385A>G, XM_024449712.1:c.385A>G, XM_017002302.2:c.385A>G, XM_017002302.1:c.385A>G, XM_017002305.2:c.88A>G, XM_017002305.1:c.88A>G, XM_047430146.1:c.532A>G, XM_047430139.1:c.673A>G, NM_001301699.1:c.385A>G, XM_047430144.1:c.385A>G, NM_001301700.1:c.385A>G, XM_047430152.1:c.385A>G, NM_001301701.1:c.88A>G, NP_076971.1:p.Ile207Val, XP_005271243.1:p.Ile207Val, XP_016857792.1:p.Ile129Val, XP_016857793.1:p.Ile89Val, XP_016857790.1:p.Ile205Val, NP_001288627.1:p.Ile129Val, XP_024305480.1:p.Ile129Val, XP_016857791.1:p.Ile129Val, XP_016857794.1:p.Ile30Val, XP_047286102.1:p.Ile178Val, XP_047286095.1:p.Ile225Val, NP_001288628.1:p.Ile129Val, XP_047286100.1:p.Ile129Val, NP_001288629.1:p.Ile129Val, XP_047286108.1:p.Ile129Val, NP_001288630.1:p.Ile30Val

                                  17.

                                  rs1328891737 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:44308378 (GRCh38)
                                    1:44774050 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:44308377:C:G
                                    Gene:
                                    ERI3 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.44308378C>G, NC_000001.10:g.44774050C>G, NM_024066.3:c.690G>C, NM_024066.2:c.690G>C, NM_024066.1:c.690G>C, XM_005271186.3:c.690G>C, XM_005271186.2:c.690G>C, XM_005271186.1:c.690G>C, XM_017002303.3:c.456G>C, XM_017002303.2:c.456G>C, XM_017002303.1:c.456G>C, XM_017002304.3:c.336G>C, XM_017002304.2:c.336G>C, XM_017002304.1:c.336G>C, XM_017002301.2:c.684G>C, XM_017002301.1:c.684G>C, NM_001301698.2:c.456G>C, NM_001301698.1:c.456G>C, XM_024449712.2:c.456G>C, XM_024449712.1:c.456G>C, XM_017002302.2:c.456G>C, XM_017002302.1:c.456G>C, XM_017002305.2:c.159G>C, XM_017002305.1:c.159G>C, XM_047430146.1:c.603G>C, XM_047430139.1:c.744G>C, NM_001301699.1:c.456G>C, XM_047430144.1:c.456G>C, NM_001301700.1:c.456G>C, XM_047430152.1:c.456G>C, NM_001301701.1:c.159G>C, NP_076971.1:p.Lys230Asn, XP_005271243.1:p.Lys230Asn, XP_016857792.1:p.Lys152Asn, XP_016857793.1:p.Lys112Asn, XP_016857790.1:p.Lys228Asn, NP_001288627.1:p.Lys152Asn, XP_024305480.1:p.Lys152Asn, XP_016857791.1:p.Lys152Asn, XP_016857794.1:p.Lys53Asn, XP_047286102.1:p.Lys201Asn, XP_047286095.1:p.Lys248Asn, NP_001288628.1:p.Lys152Asn, XP_047286100.1:p.Lys152Asn, NP_001288629.1:p.Lys152Asn, XP_047286108.1:p.Lys152Asn, NP_001288630.1:p.Lys53Asn

                                    18.

                                    rs1320459843 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      1:44308339 (GRCh38)
                                      1:44774011 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:44308338:G:A,NC_000001.11:44308338:G:C,NC_000001.11:44308338:G:T
                                      Gene:
                                      ERI3 (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)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.44308339G>A, NC_000001.11:g.44308339G>C, NC_000001.11:g.44308339G>T, NC_000001.10:g.44774011G>A, NC_000001.10:g.44774011G>C, NC_000001.10:g.44774011G>T, NM_024066.3:c.729C>T, NM_024066.3:c.729C>G, NM_024066.3:c.729C>A, NM_024066.2:c.729C>T, NM_024066.2:c.729C>G, NM_024066.2:c.729C>A, NM_024066.1:c.729C>T, NM_024066.1:c.729C>G, NM_024066.1:c.729C>A, XM_005271186.3:c.729C>T, XM_005271186.3:c.729C>G, XM_005271186.3:c.729C>A, XM_005271186.2:c.729C>T, XM_005271186.2:c.729C>G, XM_005271186.2:c.729C>A, XM_005271186.1:c.729C>T, XM_005271186.1:c.729C>G, XM_005271186.1:c.729C>A, XM_017002303.3:c.495C>T, XM_017002303.3:c.495C>G, XM_017002303.3:c.495C>A, XM_017002303.2:c.495C>T, XM_017002303.2:c.495C>G, XM_017002303.2:c.495C>A, XM_017002303.1:c.495C>T, XM_017002303.1:c.495C>G, XM_017002303.1:c.495C>A, XM_017002304.3:c.375C>T, XM_017002304.3:c.375C>G, XM_017002304.3:c.375C>A, XM_017002304.2:c.375C>T, XM_017002304.2:c.375C>G, XM_017002304.2:c.375C>A, XM_017002304.1:c.375C>T, XM_017002304.1:c.375C>G, XM_017002304.1:c.375C>A, XM_017002301.2:c.723C>T, XM_017002301.2:c.723C>G, XM_017002301.2:c.723C>A, XM_017002301.1:c.723C>T, XM_017002301.1:c.723C>G, XM_017002301.1:c.723C>A, NM_001301698.2:c.495C>T, NM_001301698.2:c.495C>G, NM_001301698.2:c.495C>A, NM_001301698.1:c.495C>T, NM_001301698.1:c.495C>G, NM_001301698.1:c.495C>A, XM_024449712.2:c.495C>T, XM_024449712.2:c.495C>G, XM_024449712.2:c.495C>A, XM_024449712.1:c.495C>T, XM_024449712.1:c.495C>G, XM_024449712.1:c.495C>A, XM_017002302.2:c.495C>T, XM_017002302.2:c.495C>G, XM_017002302.2:c.495C>A, XM_017002302.1:c.495C>T, XM_017002302.1:c.495C>G, XM_017002302.1:c.495C>A, XM_017002305.2:c.198C>T, XM_017002305.2:c.198C>G, XM_017002305.2:c.198C>A, XM_017002305.1:c.198C>T, XM_017002305.1:c.198C>G, XM_017002305.1:c.198C>A, XM_047430146.1:c.642C>T, XM_047430146.1:c.642C>G, XM_047430146.1:c.642C>A, XM_047430139.1:c.783C>T, XM_047430139.1:c.783C>G, XM_047430139.1:c.783C>A, NM_001301699.1:c.495C>T, NM_001301699.1:c.495C>G, NM_001301699.1:c.495C>A, XM_047430144.1:c.495C>T, XM_047430144.1:c.495C>G, XM_047430144.1:c.495C>A, NM_001301700.1:c.495C>T, NM_001301700.1:c.495C>G, NM_001301700.1:c.495C>A, XM_047430152.1:c.495C>T, XM_047430152.1:c.495C>G, XM_047430152.1:c.495C>A, NM_001301701.1:c.198C>T, NM_001301701.1:c.198C>G, NM_001301701.1:c.198C>A

                                      19.

                                      rs1297837178 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:44221582 (GRCh38)
                                        1:44687254 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:44221581:G:A
                                        Gene:
                                        ERI3 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000011/3 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1259174180 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:44308347 (GRCh38)
                                          1:44774019 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:44308346:T:C
                                          Gene:
                                          ERI3 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.44308347T>C, NC_000001.10:g.44774019T>C, NM_024066.3:c.721A>G, NM_024066.2:c.721A>G, NM_024066.1:c.721A>G, XM_005271186.3:c.721A>G, XM_005271186.2:c.721A>G, XM_005271186.1:c.721A>G, XM_017002303.3:c.487A>G, XM_017002303.2:c.487A>G, XM_017002303.1:c.487A>G, XM_017002304.3:c.367A>G, XM_017002304.2:c.367A>G, XM_017002304.1:c.367A>G, XM_017002301.2:c.715A>G, XM_017002301.1:c.715A>G, NM_001301698.2:c.487A>G, NM_001301698.1:c.487A>G, XM_024449712.2:c.487A>G, XM_024449712.1:c.487A>G, XM_017002302.2:c.487A>G, XM_017002302.1:c.487A>G, XM_017002305.2:c.190A>G, XM_017002305.1:c.190A>G, XM_047430146.1:c.634A>G, XM_047430139.1:c.775A>G, NM_001301699.1:c.487A>G, XM_047430144.1:c.487A>G, NM_001301700.1:c.487A>G, XM_047430152.1:c.487A>G, NM_001301701.1:c.190A>G, NP_076971.1:p.Ile241Val, XP_005271243.1:p.Ile241Val, XP_016857792.1:p.Ile163Val, XP_016857793.1:p.Ile123Val, XP_016857790.1:p.Ile239Val, NP_001288627.1:p.Ile163Val, XP_024305480.1:p.Ile163Val, XP_016857791.1:p.Ile163Val, XP_016857794.1:p.Ile64Val, XP_047286102.1:p.Ile212Val, XP_047286095.1:p.Ile259Val, NP_001288628.1:p.Ile163Val, XP_047286100.1:p.Ile163Val, NP_001288629.1:p.Ile163Val, XP_047286108.1:p.Ile163Val, NP_001288630.1:p.Ile64Val

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