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Items: 1 to 20 of 1003

1.

rs1490205935 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:79296554 (GRCh38)
    10:81056311 (GRCh37)
    Canonical SPDI:
    NC_000010.11:79296553:G:A
    Gene:
    ZMIZ1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000094/2 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1489985995 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      10:79296524 (GRCh38)
      10:81056281 (GRCh37)
      Canonical SPDI:
      NC_000010.11:79296523:A:C,NC_000010.11:79296523:A:G
      Gene:
      ZMIZ1 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      C=0.000071/2 (TOMMO)
      HGVS:
      NC_000010.11:g.79296524A>C, NC_000010.11:g.79296524A>G, NC_000010.10:g.81056281A>C, NC_000010.10:g.81056281A>G, NG_028289.1:g.232490A>C, NG_028289.1:g.232490A>G, NM_020338.4:c.1284A>C, NM_020338.4:c.1284A>G, NM_020338.3:c.1284A>C, NM_020338.3:c.1284A>G, XM_005269988.4:c.1302A>C, XM_005269988.4:c.1302A>G, XM_005269988.3:c.1302A>C, XM_005269988.3:c.1302A>G, XM_005269988.2:c.1302A>C, XM_005269988.2:c.1302A>G, XM_005269988.1:c.1302A>C, XM_005269988.1:c.1302A>G, XM_006717923.4:c.1302A>C, XM_006717923.4:c.1302A>G, XM_006717923.3:c.1302A>C, XM_006717923.3:c.1302A>G, XM_006717923.2:c.1302A>C, XM_006717923.2:c.1302A>G, XM_006717923.1:c.1302A>C, XM_006717923.1:c.1302A>G, XM_006717924.4:c.1302A>C, XM_006717924.4:c.1302A>G, XM_006717924.3:c.1302A>C, XM_006717924.3:c.1302A>G, XM_006717924.2:c.1302A>C, XM_006717924.2:c.1302A>G, XM_006717924.1:c.1302A>C, XM_006717924.1:c.1302A>G, XM_006717925.4:c.1302A>C, XM_006717925.4:c.1302A>G, XM_006717925.3:c.1302A>C, XM_006717925.3:c.1302A>G, XM_006717925.2:c.1302A>C, XM_006717925.2:c.1302A>G, XM_006717925.1:c.1302A>C, XM_006717925.1:c.1302A>G, XM_011539979.2:c.930A>C, XM_011539979.2:c.930A>G, XM_011539979.1:c.930A>C, XM_011539979.1:c.930A>G, XM_047425538.1:c.1302A>C, XM_047425538.1:c.1302A>G, XM_047425539.1:c.1284A>C, XM_047425539.1:c.1284A>G, XM_047425541.1:c.1284A>C, XM_047425541.1:c.1284A>G, XM_047425540.1:c.1284A>C, XM_047425540.1:c.1284A>G, XM_047425542.1:c.1284A>C, XM_047425542.1:c.1284A>G, XM_047425543.1:c.1284A>C, XM_047425543.1:c.1284A>G

      3.

      rs1489323811 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        10:79292246 (GRCh38)
        10:81052003 (GRCh37)
        Canonical SPDI:
        NC_000010.11:79292245:G:A,NC_000010.11:79292245:G:T
        Gene:
        ZMIZ1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000010.11:g.79292246G>A, NC_000010.11:g.79292246G>T, NC_000010.10:g.81052003G>A, NC_000010.10:g.81052003G>T, NG_028289.1:g.228212G>A, NG_028289.1:g.228212G>T, NM_020338.4:c.847G>A, NM_020338.4:c.847G>T, NM_020338.3:c.847G>A, NM_020338.3:c.847G>T, XM_005269988.4:c.847G>A, XM_005269988.4:c.847G>T, XM_005269988.3:c.847G>A, XM_005269988.3:c.847G>T, XM_005269988.2:c.847G>A, XM_005269988.2:c.847G>T, XM_005269988.1:c.847G>A, XM_005269988.1:c.847G>T, XM_006717923.4:c.847G>A, XM_006717923.4:c.847G>T, XM_006717923.3:c.847G>A, XM_006717923.3:c.847G>T, XM_006717923.2:c.847G>A, XM_006717923.2:c.847G>T, XM_006717923.1:c.847G>A, XM_006717923.1:c.847G>T, XM_006717924.4:c.847G>A, XM_006717924.4:c.847G>T, XM_006717924.3:c.847G>A, XM_006717924.3:c.847G>T, XM_006717924.2:c.847G>A, XM_006717924.2:c.847G>T, XM_006717924.1:c.847G>A, XM_006717924.1:c.847G>T, XM_006717925.4:c.847G>A, XM_006717925.4:c.847G>T, XM_006717925.3:c.847G>A, XM_006717925.3:c.847G>T, XM_006717925.2:c.847G>A, XM_006717925.2:c.847G>T, XM_006717925.1:c.847G>A, XM_006717925.1:c.847G>T, XM_011539979.2:c.475G>A, XM_011539979.2:c.475G>T, XM_011539979.1:c.475G>A, XM_011539979.1:c.475G>T, XM_047425538.1:c.847G>A, XM_047425538.1:c.847G>T, XM_047425539.1:c.847G>A, XM_047425539.1:c.847G>T, XM_047425541.1:c.847G>A, XM_047425541.1:c.847G>T, XM_047425540.1:c.847G>A, XM_047425540.1:c.847G>T, XM_047425542.1:c.847G>A, XM_047425542.1:c.847G>T, XM_047425543.1:c.847G>A, XM_047425543.1:c.847G>T, NP_065071.1:p.Ala283Thr, NP_065071.1:p.Ala283Ser, XP_005270045.1:p.Ala283Thr, XP_005270045.1:p.Ala283Ser, XP_006717986.1:p.Ala283Thr, XP_006717986.1:p.Ala283Ser, XP_006717987.1:p.Ala283Thr, XP_006717987.1:p.Ala283Ser, XP_006717988.1:p.Ala283Thr, XP_006717988.1:p.Ala283Ser, XP_011538281.1:p.Ala159Thr, XP_011538281.1:p.Ala159Ser, XP_047281494.1:p.Ala283Thr, XP_047281494.1:p.Ala283Ser, XP_047281495.1:p.Ala283Thr, XP_047281495.1:p.Ala283Ser, XP_047281497.1:p.Ala283Thr, XP_047281497.1:p.Ala283Ser, XP_047281496.1:p.Ala283Thr, XP_047281496.1:p.Ala283Ser, XP_047281498.1:p.Ala283Thr, XP_047281498.1:p.Ala283Ser, XP_047281499.1:p.Ala283Thr, XP_047281499.1:p.Ala283Ser

        4.

        rs1489069561 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:79299069 (GRCh38)
          10:81058826 (GRCh37)
          Canonical SPDI:
          NC_000010.11:79299068:G:A
          Gene:
          ZMIZ1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1487155058 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            10:79298567 (GRCh38)
            10:81058324 (GRCh37)
            Canonical SPDI:
            NC_000010.11:79298566:G:A
            Gene:
            ZMIZ1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (TOPMED)
            A=0.000013/3 (GnomAD_exomes)
            HGVS:

            6.

            rs1486046691 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:79310958 (GRCh38)
              10:81070715 (GRCh37)
              Canonical SPDI:
              NC_000010.11:79310957:C:T
              Gene:
              ZMIZ1 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              NC_000010.11:g.79310958C>T, NC_000010.10:g.81070715C>T, NG_028289.1:g.246924C>T, NM_020338.4:c.2870C>T, NM_020338.3:c.2870C>T, XM_005269988.4:c.2888C>T, XM_005269988.3:c.2888C>T, XM_005269988.2:c.2888C>T, XM_005269988.1:c.2888C>T, XM_006717923.4:c.2888C>T, XM_006717923.3:c.2888C>T, XM_006717923.2:c.2888C>T, XM_006717923.1:c.2888C>T, XM_006717924.4:c.2888C>T, XM_006717924.3:c.2888C>T, XM_006717924.2:c.2888C>T, XM_006717924.1:c.2888C>T, XM_011539979.2:c.2516C>T, XM_011539979.1:c.2516C>T, XM_047425538.1:c.2888C>T, XM_047425539.1:c.2870C>T, XM_047425541.1:c.2870C>T, XM_047425540.1:c.2870C>T, NP_065071.1:p.Pro957Leu, XP_005270045.1:p.Pro963Leu, XP_006717986.1:p.Pro963Leu, XP_006717987.1:p.Pro963Leu, XP_011538281.1:p.Pro839Leu, XP_047281494.1:p.Pro963Leu, XP_047281495.1:p.Pro957Leu, XP_047281497.1:p.Pro957Leu, XP_047281496.1:p.Pro957Leu

              7.

              rs1485867632 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:79216255 (GRCh38)
                10:80976012 (GRCh37)
                Canonical SPDI:
                NC_000010.11:79216254:G:A
                Gene:
                ZMIZ1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                HGVS:

                8.

                rs1485460985 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  10:79311046 (GRCh38)
                  10:81070803 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:79311045:T:C
                  Gene:
                  ZMIZ1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000008/2 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1485389137 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    10:79306103 (GRCh38)
                    10:81065860 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:79306102:C:T
                    Gene:
                    ZMIZ1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000091/4 (ALFA)
                    T=0.000028/7 (GnomAD_exomes)
                    T=0.000029/4 (GnomAD)
                    T=0.000034/9 (TOPMED)
                    HGVS:

                    10.

                    rs1484767945 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:79293617 (GRCh38)
                      10:81053374 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:79293616:T:C
                      Gene:
                      ZMIZ1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000008/2 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1484611861 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:79277190 (GRCh38)
                        10:81036947 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:79277189:C:T
                        Gene:
                        ZMIZ1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,5_prime_UTR_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000033/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000005/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000010.11:g.79277190C>T, NC_000010.10:g.81036947C>T, NG_028289.1:g.213156C>T, NM_020338.4:c.290C>T, NM_020338.3:c.290C>T, XM_005269988.4:c.290C>T, XM_005269988.3:c.290C>T, XM_005269988.2:c.290C>T, XM_005269988.1:c.290C>T, XM_006717923.4:c.290C>T, XM_006717923.3:c.290C>T, XM_006717923.2:c.290C>T, XM_006717923.1:c.290C>T, XM_006717924.4:c.290C>T, XM_006717924.3:c.290C>T, XM_006717924.2:c.290C>T, XM_006717924.1:c.290C>T, XM_006717925.4:c.290C>T, XM_006717925.3:c.290C>T, XM_006717925.2:c.290C>T, XM_006717925.1:c.290C>T, XM_011539979.2:c.-83C>T, XM_011539979.1:c.-83C>T, XM_047425538.1:c.290C>T, XM_047425539.1:c.290C>T, XM_047425541.1:c.290C>T, XM_047425540.1:c.290C>T, XM_047425542.1:c.290C>T, XM_047425543.1:c.290C>T, NP_065071.1:p.Ser97Phe, XP_005270045.1:p.Ser97Phe, XP_006717986.1:p.Ser97Phe, XP_006717987.1:p.Ser97Phe, XP_006717988.1:p.Ser97Phe, XP_047281494.1:p.Ser97Phe, XP_047281495.1:p.Ser97Phe, XP_047281497.1:p.Ser97Phe, XP_047281496.1:p.Ser97Phe, XP_047281498.1:p.Ser97Phe, XP_047281499.1:p.Ser97Phe

                        12.

                        rs1480826644 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:79298578 (GRCh38)
                          10:81058335 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:79298577:C:T
                          Gene:
                          ZMIZ1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000047/1 (ALFA)
                          T=0.000009/2 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.79298578C>T, NC_000010.10:g.81058335C>T, NG_028289.1:g.234544C>T, NM_020338.4:c.1664C>T, NM_020338.3:c.1664C>T, XM_005269988.4:c.1682C>T, XM_005269988.3:c.1682C>T, XM_005269988.2:c.1682C>T, XM_005269988.1:c.1682C>T, XM_006717923.4:c.1682C>T, XM_006717923.3:c.1682C>T, XM_006717923.2:c.1682C>T, XM_006717923.1:c.1682C>T, XM_006717924.4:c.1682C>T, XM_006717924.3:c.1682C>T, XM_006717924.2:c.1682C>T, XM_006717924.1:c.1682C>T, XM_006717925.4:c.1682C>T, XM_006717925.3:c.1682C>T, XM_006717925.2:c.1682C>T, XM_006717925.1:c.1682C>T, XM_011539979.2:c.1310C>T, XM_011539979.1:c.1310C>T, XM_047425538.1:c.1682C>T, XM_047425539.1:c.1664C>T, XM_047425541.1:c.1664C>T, XM_047425540.1:c.1664C>T, XM_047425542.1:c.1664C>T, XM_047425543.1:c.1664C>T, NP_065071.1:p.Pro555Leu, XP_005270045.1:p.Pro561Leu, XP_006717986.1:p.Pro561Leu, XP_006717987.1:p.Pro561Leu, XP_006717988.1:p.Pro561Leu, XP_011538281.1:p.Pro437Leu, XP_047281494.1:p.Pro561Leu, XP_047281495.1:p.Pro555Leu, XP_047281497.1:p.Pro555Leu, XP_047281496.1:p.Pro555Leu, XP_047281498.1:p.Pro555Leu, XP_047281499.1:p.Pro555Leu

                          13.

                          rs1480519161 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,T [Show Flanks]
                            Chromosome:
                            10:79307504 (GRCh38)
                            10:81067261 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:79307503:A:C,NC_000010.11:79307503:A:T
                            Gene:
                            ZMIZ1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.070899/841 (ALFA)
                            C=0.000013/3 (GnomAD_exomes)
                            T=0.000014/1 (GnomAD)
                            C=0.000425/12 (TOMMO)
                            C=0.002188/4 (Korea1K)
                            C=0.075239/220 (KOREAN)
                            HGVS:
                            NC_000010.11:g.79307504A>C, NC_000010.11:g.79307504A>T, NC_000010.10:g.81067261A>C, NC_000010.10:g.81067261A>T, NG_028289.1:g.243470A>C, NG_028289.1:g.243470A>T, NM_020338.4:c.2768A>C, NM_020338.4:c.2768A>T, NM_020338.3:c.2768A>C, NM_020338.3:c.2768A>T, XM_005269988.4:c.2786A>C, XM_005269988.4:c.2786A>T, XM_005269988.3:c.2786A>C, XM_005269988.3:c.2786A>T, XM_005269988.2:c.2786A>C, XM_005269988.2:c.2786A>T, XM_005269988.1:c.2786A>C, XM_005269988.1:c.2786A>T, XM_006717923.4:c.2786A>C, XM_006717923.4:c.2786A>T, XM_006717923.3:c.2786A>C, XM_006717923.3:c.2786A>T, XM_006717923.2:c.2786A>C, XM_006717923.2:c.2786A>T, XM_006717923.1:c.2786A>C, XM_006717923.1:c.2786A>T, XM_006717924.4:c.2786A>C, XM_006717924.4:c.2786A>T, XM_006717924.3:c.2786A>C, XM_006717924.3:c.2786A>T, XM_006717924.2:c.2786A>C, XM_006717924.2:c.2786A>T, XM_006717924.1:c.2786A>C, XM_006717924.1:c.2786A>T, XM_006717925.4:c.2786A>C, XM_006717925.4:c.2786A>T, XM_006717925.3:c.2786A>C, XM_006717925.3:c.2786A>T, XM_006717925.2:c.2786A>C, XM_006717925.2:c.2786A>T, XM_006717925.1:c.2786A>C, XM_006717925.1:c.2786A>T, XM_011539979.2:c.2414A>C, XM_011539979.2:c.2414A>T, XM_011539979.1:c.2414A>C, XM_011539979.1:c.2414A>T, XM_047425538.1:c.2786A>C, XM_047425538.1:c.2786A>T, XM_047425539.1:c.2768A>C, XM_047425539.1:c.2768A>T, XM_047425541.1:c.2768A>C, XM_047425541.1:c.2768A>T, XM_047425540.1:c.2768A>C, XM_047425540.1:c.2768A>T, XM_047425542.1:c.2768A>C, XM_047425542.1:c.2768A>T, XM_047425543.1:c.2768A>C, XM_047425543.1:c.2768A>T, NP_065071.1:p.His923Pro, NP_065071.1:p.His923Leu, XP_005270045.1:p.His929Pro, XP_005270045.1:p.His929Leu, XP_006717986.1:p.His929Pro, XP_006717986.1:p.His929Leu, XP_006717987.1:p.His929Pro, XP_006717987.1:p.His929Leu, XP_006717988.1:p.His929Pro, XP_006717988.1:p.His929Leu, XP_011538281.1:p.His805Pro, XP_011538281.1:p.His805Leu, XP_047281494.1:p.His929Pro, XP_047281494.1:p.His929Leu, XP_047281495.1:p.His923Pro, XP_047281495.1:p.His923Leu, XP_047281497.1:p.His923Pro, XP_047281497.1:p.His923Leu, XP_047281496.1:p.His923Pro, XP_047281496.1:p.His923Leu, XP_047281498.1:p.His923Pro, XP_047281498.1:p.His923Leu, XP_047281499.1:p.His923Pro, XP_047281499.1:p.His923Leu

                            14.

                            rs1480404666 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              10:79293414 (GRCh38)
                              10:81053171 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:79293413:A:G
                              Gene:
                              ZMIZ1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              HGVS:
                              NC_000010.11:g.79293414A>G, NC_000010.10:g.81053171A>G, NG_028289.1:g.229380A>G, NM_020338.4:c.991A>G, NM_020338.3:c.991A>G, XM_005269988.4:c.1009A>G, XM_005269988.3:c.1009A>G, XM_005269988.2:c.1009A>G, XM_005269988.1:c.1009A>G, XM_006717923.4:c.1009A>G, XM_006717923.3:c.1009A>G, XM_006717923.2:c.1009A>G, XM_006717923.1:c.1009A>G, XM_006717924.4:c.1009A>G, XM_006717924.3:c.1009A>G, XM_006717924.2:c.1009A>G, XM_006717924.1:c.1009A>G, XM_006717925.4:c.1009A>G, XM_006717925.3:c.1009A>G, XM_006717925.2:c.1009A>G, XM_006717925.1:c.1009A>G, XM_011539979.2:c.637A>G, XM_011539979.1:c.637A>G, XM_047425538.1:c.1009A>G, XM_047425539.1:c.991A>G, XM_047425541.1:c.991A>G, XM_047425540.1:c.991A>G, XM_047425542.1:c.991A>G, XM_047425543.1:c.991A>G, NP_065071.1:p.Met331Val, XP_005270045.1:p.Met337Val, XP_006717986.1:p.Met337Val, XP_006717987.1:p.Met337Val, XP_006717988.1:p.Met337Val, XP_011538281.1:p.Met213Val, XP_047281494.1:p.Met337Val, XP_047281495.1:p.Met331Val, XP_047281497.1:p.Met331Val, XP_047281496.1:p.Met331Val, XP_047281498.1:p.Met331Val, XP_047281499.1:p.Met331Val

                              15.

                              rs1479254015 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                10:79298531 (GRCh38)
                                10:81058288 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:79298530:C:G,NC_000010.11:79298530:C:T
                                Gene:
                                ZMIZ1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                G=0.000035/1 (TOMMO)
                                HGVS:
                                NC_000010.11:g.79298531C>G, NC_000010.11:g.79298531C>T, NC_000010.10:g.81058288C>G, NC_000010.10:g.81058288C>T, NG_028289.1:g.234497C>G, NG_028289.1:g.234497C>T, NM_020338.4:c.1617C>G, NM_020338.4:c.1617C>T, NM_020338.3:c.1617C>G, NM_020338.3:c.1617C>T, XM_005269988.4:c.1635C>G, XM_005269988.4:c.1635C>T, XM_005269988.3:c.1635C>G, XM_005269988.3:c.1635C>T, XM_005269988.2:c.1635C>G, XM_005269988.2:c.1635C>T, XM_005269988.1:c.1635C>G, XM_005269988.1:c.1635C>T, XM_006717923.4:c.1635C>G, XM_006717923.4:c.1635C>T, XM_006717923.3:c.1635C>G, XM_006717923.3:c.1635C>T, XM_006717923.2:c.1635C>G, XM_006717923.2:c.1635C>T, XM_006717923.1:c.1635C>G, XM_006717923.1:c.1635C>T, XM_006717924.4:c.1635C>G, XM_006717924.4:c.1635C>T, XM_006717924.3:c.1635C>G, XM_006717924.3:c.1635C>T, XM_006717924.2:c.1635C>G, XM_006717924.2:c.1635C>T, XM_006717924.1:c.1635C>G, XM_006717924.1:c.1635C>T, XM_006717925.4:c.1635C>G, XM_006717925.4:c.1635C>T, XM_006717925.3:c.1635C>G, XM_006717925.3:c.1635C>T, XM_006717925.2:c.1635C>G, XM_006717925.2:c.1635C>T, XM_006717925.1:c.1635C>G, XM_006717925.1:c.1635C>T, XM_011539979.2:c.1263C>G, XM_011539979.2:c.1263C>T, XM_011539979.1:c.1263C>G, XM_011539979.1:c.1263C>T, XM_047425538.1:c.1635C>G, XM_047425538.1:c.1635C>T, XM_047425539.1:c.1617C>G, XM_047425539.1:c.1617C>T, XM_047425541.1:c.1617C>G, XM_047425541.1:c.1617C>T, XM_047425540.1:c.1617C>G, XM_047425540.1:c.1617C>T, XM_047425542.1:c.1617C>G, XM_047425542.1:c.1617C>T, XM_047425543.1:c.1617C>G, XM_047425543.1:c.1617C>T

                                16.

                                rs1478716512 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:79293583 (GRCh38)
                                  10:81053340 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:79293582:A:G
                                  Gene:
                                  ZMIZ1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.79293583A>G, NC_000010.10:g.81053340A>G, NG_028289.1:g.229549A>G, NM_020338.4:c.1160A>G, NM_020338.3:c.1160A>G, XM_005269988.4:c.1178A>G, XM_005269988.3:c.1178A>G, XM_005269988.2:c.1178A>G, XM_005269988.1:c.1178A>G, XM_006717923.4:c.1178A>G, XM_006717923.3:c.1178A>G, XM_006717923.2:c.1178A>G, XM_006717923.1:c.1178A>G, XM_006717924.4:c.1178A>G, XM_006717924.3:c.1178A>G, XM_006717924.2:c.1178A>G, XM_006717924.1:c.1178A>G, XM_006717925.4:c.1178A>G, XM_006717925.3:c.1178A>G, XM_006717925.2:c.1178A>G, XM_006717925.1:c.1178A>G, XM_011539979.2:c.806A>G, XM_011539979.1:c.806A>G, XM_047425538.1:c.1178A>G, XM_047425539.1:c.1160A>G, XM_047425541.1:c.1160A>G, XM_047425540.1:c.1160A>G, XM_047425542.1:c.1160A>G, XM_047425543.1:c.1160A>G, NP_065071.1:p.Gln387Arg, XP_005270045.1:p.Gln393Arg, XP_006717986.1:p.Gln393Arg, XP_006717987.1:p.Gln393Arg, XP_006717988.1:p.Gln393Arg, XP_011538281.1:p.Gln269Arg, XP_047281494.1:p.Gln393Arg, XP_047281495.1:p.Gln387Arg, XP_047281497.1:p.Gln387Arg, XP_047281496.1:p.Gln387Arg, XP_047281498.1:p.Gln387Arg, XP_047281499.1:p.Gln387Arg

                                  17.

                                  rs1478224548 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    10:79293527 (GRCh38)
                                    10:81053284 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:79293526:C:A
                                    Gene:
                                    ZMIZ1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000224/1 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000223/1 (Estonian)
                                    HGVS:
                                    NC_000010.11:g.79293527C>A, NC_000010.10:g.81053284C>A, NG_028289.1:g.229493C>A, NM_020338.4:c.1104C>A, NM_020338.3:c.1104C>A, XM_005269988.4:c.1122C>A, XM_005269988.3:c.1122C>A, XM_005269988.2:c.1122C>A, XM_005269988.1:c.1122C>A, XM_006717923.4:c.1122C>A, XM_006717923.3:c.1122C>A, XM_006717923.2:c.1122C>A, XM_006717923.1:c.1122C>A, XM_006717924.4:c.1122C>A, XM_006717924.3:c.1122C>A, XM_006717924.2:c.1122C>A, XM_006717924.1:c.1122C>A, XM_006717925.4:c.1122C>A, XM_006717925.3:c.1122C>A, XM_006717925.2:c.1122C>A, XM_006717925.1:c.1122C>A, XM_011539979.2:c.750C>A, XM_011539979.1:c.750C>A, XM_047425538.1:c.1122C>A, XM_047425539.1:c.1104C>A, XM_047425541.1:c.1104C>A, XM_047425540.1:c.1104C>A, XM_047425542.1:c.1104C>A, XM_047425543.1:c.1104C>A, NP_065071.1:p.Asn368Lys, XP_005270045.1:p.Asn374Lys, XP_006717986.1:p.Asn374Lys, XP_006717987.1:p.Asn374Lys, XP_006717988.1:p.Asn374Lys, XP_011538281.1:p.Asn250Lys, XP_047281494.1:p.Asn374Lys, XP_047281495.1:p.Asn368Lys, XP_047281497.1:p.Asn368Lys, XP_047281496.1:p.Asn368Lys, XP_047281498.1:p.Asn368Lys, XP_047281499.1:p.Asn368Lys

                                    18.

                                    rs1477891777 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      10:79277289 (GRCh38)
                                      10:81037046 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:79277288:G:A,NC_000010.11:79277288:G:C
                                      Gene:
                                      ZMIZ1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000010.11:g.79277289G>A, NC_000010.11:g.79277289G>C, NC_000010.10:g.81037046G>A, NC_000010.10:g.81037046G>C, NG_028289.1:g.213255G>A, NG_028289.1:g.213255G>C, NM_020338.4:c.389G>A, NM_020338.4:c.389G>C, NM_020338.3:c.389G>A, NM_020338.3:c.389G>C, XM_005269988.4:c.389G>A, XM_005269988.4:c.389G>C, XM_005269988.3:c.389G>A, XM_005269988.3:c.389G>C, XM_005269988.2:c.389G>A, XM_005269988.2:c.389G>C, XM_005269988.1:c.389G>A, XM_005269988.1:c.389G>C, XM_006717923.4:c.389G>A, XM_006717923.4:c.389G>C, XM_006717923.3:c.389G>A, XM_006717923.3:c.389G>C, XM_006717923.2:c.389G>A, XM_006717923.2:c.389G>C, XM_006717923.1:c.389G>A, XM_006717923.1:c.389G>C, XM_006717924.4:c.389G>A, XM_006717924.4:c.389G>C, XM_006717924.3:c.389G>A, XM_006717924.3:c.389G>C, XM_006717924.2:c.389G>A, XM_006717924.2:c.389G>C, XM_006717924.1:c.389G>A, XM_006717924.1:c.389G>C, XM_006717925.4:c.389G>A, XM_006717925.4:c.389G>C, XM_006717925.3:c.389G>A, XM_006717925.3:c.389G>C, XM_006717925.2:c.389G>A, XM_006717925.2:c.389G>C, XM_006717925.1:c.389G>A, XM_006717925.1:c.389G>C, XM_011539979.2:c.17G>A, XM_011539979.2:c.17G>C, XM_011539979.1:c.17G>A, XM_011539979.1:c.17G>C, XM_047425538.1:c.389G>A, XM_047425538.1:c.389G>C, XM_047425539.1:c.389G>A, XM_047425539.1:c.389G>C, XM_047425541.1:c.389G>A, XM_047425541.1:c.389G>C, XM_047425540.1:c.389G>A, XM_047425540.1:c.389G>C, XM_047425542.1:c.389G>A, XM_047425542.1:c.389G>C, XM_047425543.1:c.389G>A, XM_047425543.1:c.389G>C, NP_065071.1:p.Ser130Asn, NP_065071.1:p.Ser130Thr, XP_005270045.1:p.Ser130Asn, XP_005270045.1:p.Ser130Thr, XP_006717986.1:p.Ser130Asn, XP_006717986.1:p.Ser130Thr, XP_006717987.1:p.Ser130Asn, XP_006717987.1:p.Ser130Thr, XP_006717988.1:p.Ser130Asn, XP_006717988.1:p.Ser130Thr, XP_011538281.1:p.Ser6Asn, XP_011538281.1:p.Ser6Thr, XP_047281494.1:p.Ser130Asn, XP_047281494.1:p.Ser130Thr, XP_047281495.1:p.Ser130Asn, XP_047281495.1:p.Ser130Thr, XP_047281497.1:p.Ser130Asn, XP_047281497.1:p.Ser130Thr, XP_047281496.1:p.Ser130Asn, XP_047281496.1:p.Ser130Thr, XP_047281498.1:p.Ser130Asn, XP_047281498.1:p.Ser130Thr, XP_047281499.1:p.Ser130Asn, XP_047281499.1:p.Ser130Thr

                                      19.

                                      rs1477441019 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:79306139 (GRCh38)
                                        10:81065896 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:79306138:C:T
                                        Gene:
                                        ZMIZ1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        HGVS:

                                        20.

                                        rs1477138982 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          10:79292236 (GRCh38)
                                          10:81051993 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:79292235:C:T
                                          Gene:
                                          ZMIZ1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          T=0.000685/2 (KOREAN)
                                          HGVS:

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