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Items: 1 to 20 of 195

1.

rs1490964211 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    16:3308622 (GRCh38)
    16:3358622 (GRCh37)
    Canonical SPDI:
    NC_000016.10:3308621:C:G
    Gene:
    ZNF75A (Varview)
    Functional Consequence:
    intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000016.10:g.3308622C>G, NC_000016.9:g.3358622C>G, XM_011522646.4:c.194C>G, XM_011522646.3:c.194C>G, XM_011522646.2:c.194C>G, XM_011522646.1:c.194C>G, XM_017023643.3:c.194C>G, XM_017023643.2:c.194C>G, XM_017023643.1:c.194C>G, XM_017023645.3:c.194C>G, XM_017023645.2:c.194C>G, XM_017023645.1:c.194C>G, XM_017023644.3:c.194C>G, XM_017023644.2:c.194C>G, XM_017023644.1:c.194C>G, NM_001352498.2:c.-757C>G, NM_001352498.1:c.-757C>G, NM_001302109.2:c.194C>G, NM_001302109.1:c.194C>G, NM_001352497.2:c.-757C>G, NM_001352497.1:c.-757C>G, NM_001324085.2:c.194C>G, NM_001324085.1:c.194C>G, XM_047434589.1:c.-2744C>G, XM_047434590.1:c.-1628C>G, XM_047434591.1:c.-1524C>G, XM_047434587.1:c.194C>G, XM_047434588.1:c.194C>G, NM_001324041.1:c.194C>G, NR_136686.1:n.505C>G, NR_136681.1:n.479C>G, NR_126069.1:n.310C>G, XM_047434593.1:c.194C>G, XP_011520948.1:p.Ala65Gly, XP_016879132.1:p.Ala65Gly, XP_016879134.1:p.Ala65Gly, XP_016879133.1:p.Ala65Gly, NP_001289038.1:p.Ala65Gly, NP_001311014.1:p.Ala65Gly, XP_047290543.1:p.Ala65Gly, XP_047290544.1:p.Ala65Gly, NP_001310970.1:p.Ala65Gly, XP_047290549.1:p.Ala65Gly

    2.

    rs1481656177 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G,T [Show Flanks]
      Chromosome:
      16:3308444 (GRCh38)
      16:3358444 (GRCh37)
      Canonical SPDI:
      NC_000016.10:3308443:C:A,NC_000016.10:3308443:C:G,NC_000016.10:3308443:C:T
      Gene:
      ZNF75A (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      HGVS:
      NC_000016.10:g.3308444C>A, NC_000016.10:g.3308444C>G, NC_000016.10:g.3308444C>T, NC_000016.9:g.3358444C>A, NC_000016.9:g.3358444C>G, NC_000016.9:g.3358444C>T, XM_011522646.4:c.16C>A, XM_011522646.4:c.16C>G, XM_011522646.4:c.16C>T, XM_011522646.3:c.16C>A, XM_011522646.3:c.16C>G, XM_011522646.3:c.16C>T, XM_011522646.2:c.16C>A, XM_011522646.2:c.16C>G, XM_011522646.2:c.16C>T, XM_011522646.1:c.16C>A, XM_011522646.1:c.16C>G, XM_011522646.1:c.16C>T, XM_017023643.3:c.16C>A, XM_017023643.3:c.16C>G, XM_017023643.3:c.16C>T, XM_017023643.2:c.16C>A, XM_017023643.2:c.16C>G, XM_017023643.2:c.16C>T, XM_017023643.1:c.16C>A, XM_017023643.1:c.16C>G, XM_017023643.1:c.16C>T, XM_017023645.3:c.16C>A, XM_017023645.3:c.16C>G, XM_017023645.3:c.16C>T, XM_017023645.2:c.16C>A, XM_017023645.2:c.16C>G, XM_017023645.2:c.16C>T, XM_017023645.1:c.16C>A, XM_017023645.1:c.16C>G, XM_017023645.1:c.16C>T, XM_017023644.3:c.16C>A, XM_017023644.3:c.16C>G, XM_017023644.3:c.16C>T, XM_017023644.2:c.16C>A, XM_017023644.2:c.16C>G, XM_017023644.2:c.16C>T, XM_017023644.1:c.16C>A, XM_017023644.1:c.16C>G, XM_017023644.1:c.16C>T, NM_001352498.2:c.-935C>A, NM_001352498.2:c.-935C>G, NM_001352498.2:c.-935C>T, NM_001352498.1:c.-935C>A, NM_001352498.1:c.-935C>G, NM_001352498.1:c.-935C>T, NM_001302109.2:c.16C>A, NM_001302109.2:c.16C>G, NM_001302109.2:c.16C>T, NM_001302109.1:c.16C>A, NM_001302109.1:c.16C>G, NM_001302109.1:c.16C>T, NM_001352497.2:c.-935C>A, NM_001352497.2:c.-935C>G, NM_001352497.2:c.-935C>T, NM_001352497.1:c.-935C>A, NM_001352497.1:c.-935C>G, NM_001352497.1:c.-935C>T, NM_001324085.2:c.16C>A, NM_001324085.2:c.16C>G, NM_001324085.2:c.16C>T, NM_001324085.1:c.16C>A, NM_001324085.1:c.16C>G, NM_001324085.1:c.16C>T, XM_047434589.1:c.-2922C>A, XM_047434589.1:c.-2922C>G, XM_047434589.1:c.-2922C>T, XM_047434590.1:c.-1806C>A, XM_047434590.1:c.-1806C>G, XM_047434590.1:c.-1806C>T, XM_047434591.1:c.-1702C>A, XM_047434591.1:c.-1702C>G, XM_047434591.1:c.-1702C>T, XM_047434587.1:c.16C>A, XM_047434587.1:c.16C>G, XM_047434587.1:c.16C>T, XM_047434588.1:c.16C>A, XM_047434588.1:c.16C>G, XM_047434588.1:c.16C>T, NM_001324041.1:c.16C>A, NM_001324041.1:c.16C>G, NM_001324041.1:c.16C>T, NR_136686.1:n.327C>A, NR_136686.1:n.327C>G, NR_136686.1:n.327C>T, NR_136681.1:n.301C>A, NR_136681.1:n.301C>G, NR_136681.1:n.301C>T, NR_126069.1:n.132C>A, NR_126069.1:n.132C>G, NR_126069.1:n.132C>T, XM_047434593.1:c.16C>A, XM_047434593.1:c.16C>G, XM_047434593.1:c.16C>T, XP_011520948.1:p.Leu6Met, XP_011520948.1:p.Leu6Val, XP_016879132.1:p.Leu6Met, XP_016879132.1:p.Leu6Val, XP_016879134.1:p.Leu6Met, XP_016879134.1:p.Leu6Val, XP_016879133.1:p.Leu6Met, XP_016879133.1:p.Leu6Val, NP_001289038.1:p.Leu6Met, NP_001289038.1:p.Leu6Val, NP_001311014.1:p.Leu6Met, NP_001311014.1:p.Leu6Val, XP_047290543.1:p.Leu6Met, XP_047290543.1:p.Leu6Val, XP_047290544.1:p.Leu6Met, XP_047290544.1:p.Leu6Val, NP_001310970.1:p.Leu6Met, NP_001310970.1:p.Leu6Val, XP_047290549.1:p.Leu6Met, XP_047290549.1:p.Leu6Val

      3.

      rs1475864125 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        16:3311881 (GRCh38)
        16:3361881 (GRCh37)
        Canonical SPDI:
        NC_000016.10:3311880:A:C
        Gene:
        ZNF75A (Varview)
        Functional Consequence:
        coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000014/2 (GnomAD)
        C=0.00003/8 (TOPMED)
        HGVS:
        NC_000016.10:g.3311881A>C, NC_000016.9:g.3361881A>C, XM_011522646.4:c.537A>C, XM_011522646.3:c.537A>C, XM_011522646.2:c.537A>C, XM_011522646.1:c.537A>C, NM_153028.4:c.-187A>C, NM_153028.3:c.-187A>C, NM_153028.2:c.-187A>C, XM_011522647.3:c.-187A>C, XM_011522647.2:c.-187A>C, XM_011522647.1:c.-187A>C, XM_017023643.3:c.537A>C, XM_017023643.2:c.537A>C, XM_017023643.1:c.537A>C, XM_017023645.3:c.537A>C, XM_017023645.2:c.537A>C, XM_017023645.1:c.537A>C, XM_017023644.3:c.537A>C, XM_017023644.2:c.537A>C, XM_017023644.1:c.537A>C, NM_001352498.2:c.-414A>C, NM_001352498.1:c.-414A>C, NM_001302109.2:c.537A>C, NM_001302109.1:c.537A>C, NM_001352497.2:c.-414A>C, NM_001352497.1:c.-414A>C, NM_001324085.2:c.537A>C, NM_001324085.1:c.537A>C, NM_001352495.2:c.-414A>C, NM_001352495.1:c.-414A>C, XM_047434589.1:c.-187A>C, XM_047434590.1:c.-187A>C, XM_047434591.1:c.-187A>C, XM_047434587.1:c.537A>C, XM_047434588.1:c.537A>C, NM_001324041.1:c.537A>C, NR_136686.1:n.848A>C, NR_136681.1:n.822A>C, NR_126069.1:n.653A>C, XM_047434593.1:c.537A>C, XM_047434592.1:c.-187A>C, NR_136683.1:n.298A>C

        4.

        rs1470650713 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          16:3308680 (GRCh38)
          16:3358680 (GRCh37)
          Canonical SPDI:
          NC_000016.10:3308679:A:G
          Gene:
          ZNF75A (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000224/1 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000223/1 (Estonian)
          HGVS:
          NC_000016.10:g.3308680A>G, NC_000016.9:g.3358680A>G, XM_011522646.4:c.252A>G, XM_011522646.3:c.252A>G, XM_011522646.2:c.252A>G, XM_011522646.1:c.252A>G, XM_017023643.3:c.252A>G, XM_017023643.2:c.252A>G, XM_017023643.1:c.252A>G, XM_017023645.3:c.252A>G, XM_017023645.2:c.252A>G, XM_017023645.1:c.252A>G, XM_017023644.3:c.252A>G, XM_017023644.2:c.252A>G, XM_017023644.1:c.252A>G, NM_001352498.2:c.-699A>G, NM_001352498.1:c.-699A>G, NM_001302109.2:c.252A>G, NM_001302109.1:c.252A>G, NM_001352497.2:c.-699A>G, NM_001352497.1:c.-699A>G, NM_001324085.2:c.252A>G, NM_001324085.1:c.252A>G, XM_047434589.1:c.-2686A>G, XM_047434590.1:c.-1570A>G, XM_047434591.1:c.-1466A>G, XM_047434587.1:c.252A>G, XM_047434588.1:c.252A>G, NM_001324041.1:c.252A>G, NR_136686.1:n.563A>G, NR_136681.1:n.537A>G, NR_126069.1:n.368A>G, XM_047434593.1:c.252A>G

          5.

          rs1463031237 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            16:3322924 (GRCh38)
            16:3372924 (GRCh37)
            Canonical SPDI:
            NC_000016.10:3322923:T:C,NC_000016.10:3322923:T:G
            Gene:
            OR2C1 (Varview), ZNF75A (Varview)
            Functional Consequence:
            2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000011/3 (TOPMED)
            G=0.000029/4 (GnomAD)
            C=0.000342/1 (KOREAN)
            HGVS:

            6.

            rs1462583143 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:3311930 (GRCh38)
              16:3361930 (GRCh37)
              Canonical SPDI:
              NC_000016.10:3311929:G:A
              Gene:
              ZNF75A (Varview)
              Functional Consequence:
              5_prime_UTR_variant,missense_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:
              NC_000016.10:g.3311930G>A, NC_000016.9:g.3361930G>A, XM_011522646.4:c.586G>A, XM_011522646.3:c.586G>A, XM_011522646.2:c.586G>A, XM_011522646.1:c.586G>A, NM_153028.4:c.-138G>A, NM_153028.3:c.-138G>A, NM_153028.2:c.-138G>A, XM_011522647.3:c.-138G>A, XM_011522647.2:c.-138G>A, XM_011522647.1:c.-138G>A, XM_017023643.3:c.586G>A, XM_017023643.2:c.586G>A, XM_017023643.1:c.586G>A, XM_017023645.3:c.586G>A, XM_017023645.2:c.586G>A, XM_017023645.1:c.586G>A, XM_017023644.3:c.586G>A, XM_017023644.2:c.586G>A, XM_017023644.1:c.586G>A, NM_001352498.2:c.-365G>A, NM_001352498.1:c.-365G>A, NM_001302109.2:c.586G>A, NM_001302109.1:c.586G>A, NM_001352497.2:c.-365G>A, NM_001352497.1:c.-365G>A, NM_001324085.2:c.586G>A, NM_001324085.1:c.586G>A, NM_001352495.2:c.-365G>A, NM_001352495.1:c.-365G>A, XM_047434589.1:c.-138G>A, XM_047434590.1:c.-138G>A, XM_047434591.1:c.-138G>A, XM_047434587.1:c.586G>A, XM_047434588.1:c.586G>A, NM_001324041.1:c.586G>A, NR_136686.1:n.897G>A, NR_136681.1:n.871G>A, NR_126069.1:n.702G>A, XM_047434593.1:c.586G>A, XM_047434592.1:c.-138G>A, NR_136683.1:n.347G>A, XP_011520948.1:p.Glu196Lys, XP_016879132.1:p.Glu196Lys, XP_016879134.1:p.Glu196Lys, XP_016879133.1:p.Glu196Lys, NP_001289038.1:p.Glu196Lys, NP_001311014.1:p.Glu196Lys, XP_047290543.1:p.Glu196Lys, XP_047290544.1:p.Glu196Lys, NP_001310970.1:p.Glu196Lys, XP_047290549.1:p.Glu196Lys

              7.

              rs1452206781 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                16:3322966 (GRCh38)
                16:3372966 (GRCh37)
                Canonical SPDI:
                NC_000016.10:3322965:A:C,NC_000016.10:3322965:A:G
                Gene:
                OR2C1 (Varview), ZNF75A (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_upstream_transcript_variant,downstream_transcript_variant,missense_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                HGVS:

                8.

                rs1450251518 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  16:3308550 (GRCh38)
                  16:3358550 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:3308549:G:C
                  Gene:
                  ZNF75A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000016.10:g.3308550G>C, NC_000016.9:g.3358550G>C, XM_011522646.4:c.122G>C, XM_011522646.3:c.122G>C, XM_011522646.2:c.122G>C, XM_011522646.1:c.122G>C, XM_017023643.3:c.122G>C, XM_017023643.2:c.122G>C, XM_017023643.1:c.122G>C, XM_017023645.3:c.122G>C, XM_017023645.2:c.122G>C, XM_017023645.1:c.122G>C, XM_017023644.3:c.122G>C, XM_017023644.2:c.122G>C, XM_017023644.1:c.122G>C, NM_001352498.2:c.-829G>C, NM_001352498.1:c.-829G>C, NM_001302109.2:c.122G>C, NM_001302109.1:c.122G>C, NM_001352497.2:c.-829G>C, NM_001352497.1:c.-829G>C, NM_001324085.2:c.122G>C, NM_001324085.1:c.122G>C, XM_047434589.1:c.-2816G>C, XM_047434590.1:c.-1700G>C, XM_047434591.1:c.-1596G>C, XM_047434587.1:c.122G>C, XM_047434588.1:c.122G>C, NM_001324041.1:c.122G>C, NR_136686.1:n.433G>C, NR_136681.1:n.407G>C, NR_126069.1:n.238G>C, XM_047434593.1:c.122G>C, XP_011520948.1:p.Cys41Ser, XP_016879132.1:p.Cys41Ser, XP_016879134.1:p.Cys41Ser, XP_016879133.1:p.Cys41Ser, NP_001289038.1:p.Cys41Ser, NP_001311014.1:p.Cys41Ser, XP_047290543.1:p.Cys41Ser, XP_047290544.1:p.Cys41Ser, NP_001310970.1:p.Cys41Ser, XP_047290549.1:p.Cys41Ser

                  9.

                  rs1446754774 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    16:3308566 (GRCh38)
                    16:3358566 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:3308565:C:G,NC_000016.10:3308565:C:T
                    Gene:
                    ZNF75A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000036/5 (GnomAD)
                    HGVS:
                    NC_000016.10:g.3308566C>G, NC_000016.10:g.3308566C>T, NC_000016.9:g.3358566C>G, NC_000016.9:g.3358566C>T, XM_011522646.4:c.138C>G, XM_011522646.4:c.138C>T, XM_011522646.3:c.138C>G, XM_011522646.3:c.138C>T, XM_011522646.2:c.138C>G, XM_011522646.2:c.138C>T, XM_011522646.1:c.138C>G, XM_011522646.1:c.138C>T, XM_017023643.3:c.138C>G, XM_017023643.3:c.138C>T, XM_017023643.2:c.138C>G, XM_017023643.2:c.138C>T, XM_017023643.1:c.138C>G, XM_017023643.1:c.138C>T, XM_017023645.3:c.138C>G, XM_017023645.3:c.138C>T, XM_017023645.2:c.138C>G, XM_017023645.2:c.138C>T, XM_017023645.1:c.138C>G, XM_017023645.1:c.138C>T, XM_017023644.3:c.138C>G, XM_017023644.3:c.138C>T, XM_017023644.2:c.138C>G, XM_017023644.2:c.138C>T, XM_017023644.1:c.138C>G, XM_017023644.1:c.138C>T, NM_001352498.2:c.-813C>G, NM_001352498.2:c.-813C>T, NM_001352498.1:c.-813C>G, NM_001352498.1:c.-813C>T, NM_001302109.2:c.138C>G, NM_001302109.2:c.138C>T, NM_001302109.1:c.138C>G, NM_001302109.1:c.138C>T, NM_001352497.2:c.-813C>G, NM_001352497.2:c.-813C>T, NM_001352497.1:c.-813C>G, NM_001352497.1:c.-813C>T, NM_001324085.2:c.138C>G, NM_001324085.2:c.138C>T, NM_001324085.1:c.138C>G, NM_001324085.1:c.138C>T, XM_047434589.1:c.-2800C>G, XM_047434589.1:c.-2800C>T, XM_047434590.1:c.-1684C>G, XM_047434590.1:c.-1684C>T, XM_047434591.1:c.-1580C>G, XM_047434591.1:c.-1580C>T, XM_047434587.1:c.138C>G, XM_047434587.1:c.138C>T, XM_047434588.1:c.138C>G, XM_047434588.1:c.138C>T, NM_001324041.1:c.138C>G, NM_001324041.1:c.138C>T, NR_136686.1:n.449C>G, NR_136686.1:n.449C>T, NR_136681.1:n.423C>G, NR_136681.1:n.423C>T, NR_126069.1:n.254C>G, NR_126069.1:n.254C>T, XM_047434593.1:c.138C>G, XM_047434593.1:c.138C>T, XP_011520948.1:p.Ser46Arg, XP_016879132.1:p.Ser46Arg, XP_016879134.1:p.Ser46Arg, XP_016879133.1:p.Ser46Arg, NP_001289038.1:p.Ser46Arg, NP_001311014.1:p.Ser46Arg, XP_047290543.1:p.Ser46Arg, XP_047290544.1:p.Ser46Arg, NP_001310970.1:p.Ser46Arg, XP_047290549.1:p.Ser46Arg

                    10.

                    rs1446493773 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      16:3308455 (GRCh38)
                      16:3358455 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:3308454:T:A
                      Gene:
                      ZNF75A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.000019/5 (TOPMED)
                      HGVS:
                      NC_000016.10:g.3308455T>A, NC_000016.9:g.3358455T>A, XM_011522646.4:c.27T>A, XM_011522646.3:c.27T>A, XM_011522646.2:c.27T>A, XM_011522646.1:c.27T>A, XM_017023643.3:c.27T>A, XM_017023643.2:c.27T>A, XM_017023643.1:c.27T>A, XM_017023645.3:c.27T>A, XM_017023645.2:c.27T>A, XM_017023645.1:c.27T>A, XM_017023644.3:c.27T>A, XM_017023644.2:c.27T>A, XM_017023644.1:c.27T>A, NM_001352498.2:c.-924T>A, NM_001352498.1:c.-924T>A, NM_001302109.2:c.27T>A, NM_001302109.1:c.27T>A, NM_001352497.2:c.-924T>A, NM_001352497.1:c.-924T>A, NM_001324085.2:c.27T>A, NM_001324085.1:c.27T>A, XM_047434589.1:c.-2911T>A, XM_047434590.1:c.-1795T>A, XM_047434591.1:c.-1691T>A, XM_047434587.1:c.27T>A, XM_047434588.1:c.27T>A, NM_001324041.1:c.27T>A, NR_136686.1:n.338T>A, NR_136681.1:n.312T>A, NR_126069.1:n.143T>A, XM_047434593.1:c.27T>A

                      11.

                      rs1444829426 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        16:3308594 (GRCh38)
                        16:3358594 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:3308593:T:G
                        Gene:
                        ZNF75A (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000016.10:g.3308594T>G, NC_000016.9:g.3358594T>G, XM_011522646.4:c.166T>G, XM_011522646.3:c.166T>G, XM_011522646.2:c.166T>G, XM_011522646.1:c.166T>G, XM_017023643.3:c.166T>G, XM_017023643.2:c.166T>G, XM_017023643.1:c.166T>G, XM_017023645.3:c.166T>G, XM_017023645.2:c.166T>G, XM_017023645.1:c.166T>G, XM_017023644.3:c.166T>G, XM_017023644.2:c.166T>G, XM_017023644.1:c.166T>G, NM_001352498.2:c.-785T>G, NM_001352498.1:c.-785T>G, NM_001302109.2:c.166T>G, NM_001302109.1:c.166T>G, NM_001352497.2:c.-785T>G, NM_001352497.1:c.-785T>G, NM_001324085.2:c.166T>G, NM_001324085.1:c.166T>G, XM_047434589.1:c.-2772T>G, XM_047434590.1:c.-1656T>G, XM_047434591.1:c.-1552T>G, XM_047434587.1:c.166T>G, XM_047434588.1:c.166T>G, NM_001324041.1:c.166T>G, NR_136686.1:n.477T>G, NR_136681.1:n.451T>G, NR_126069.1:n.282T>G, XM_047434593.1:c.166T>G, XP_011520948.1:p.Tyr56Asp, XP_016879132.1:p.Tyr56Asp, XP_016879134.1:p.Tyr56Asp, XP_016879133.1:p.Tyr56Asp, NP_001289038.1:p.Tyr56Asp, NP_001311014.1:p.Tyr56Asp, XP_047290543.1:p.Tyr56Asp, XP_047290544.1:p.Tyr56Asp, NP_001310970.1:p.Tyr56Asp, XP_047290549.1:p.Tyr56Asp

                        12.

                        rs1442633749 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:3308746 (GRCh38)
                          16:3358746 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:3308745:C:T
                          Gene:
                          ZNF75A (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000016.10:g.3308746C>T, NC_000016.9:g.3358746C>T, XM_011522646.4:c.318C>T, XM_011522646.3:c.318C>T, XM_011522646.2:c.318C>T, XM_011522646.1:c.318C>T, XM_017023643.3:c.318C>T, XM_017023643.2:c.318C>T, XM_017023643.1:c.318C>T, XM_017023645.3:c.318C>T, XM_017023645.2:c.318C>T, XM_017023645.1:c.318C>T, XM_017023644.3:c.318C>T, XM_017023644.2:c.318C>T, XM_017023644.1:c.318C>T, NM_001352498.2:c.-633C>T, NM_001352498.1:c.-633C>T, NM_001302109.2:c.318C>T, NM_001302109.1:c.318C>T, NM_001352497.2:c.-633C>T, NM_001352497.1:c.-633C>T, NM_001324085.2:c.318C>T, NM_001324085.1:c.318C>T, XM_047434589.1:c.-2620C>T, XM_047434590.1:c.-1504C>T, XM_047434591.1:c.-1400C>T, XM_047434587.1:c.318C>T, XM_047434588.1:c.318C>T, NM_001324041.1:c.318C>T, NR_136686.1:n.629C>T, NR_136681.1:n.603C>T, NR_126069.1:n.434C>T, XM_047434593.1:c.318C>T

                          13.

                          rs1442599161 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            16:3308810 (GRCh38)
                            16:3358810 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:3308809:A:G
                            Gene:
                            ZNF75A (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000016.10:g.3308810A>G, NC_000016.9:g.3358810A>G, XM_011522646.4:c.382A>G, XM_011522646.3:c.382A>G, XM_011522646.2:c.382A>G, XM_011522646.1:c.382A>G, XM_017023643.3:c.382A>G, XM_017023643.2:c.382A>G, XM_017023643.1:c.382A>G, XM_017023645.3:c.382A>G, XM_017023645.2:c.382A>G, XM_017023645.1:c.382A>G, XM_017023644.3:c.382A>G, XM_017023644.2:c.382A>G, XM_017023644.1:c.382A>G, NM_001352498.2:c.-569A>G, NM_001352498.1:c.-569A>G, NM_001302109.2:c.382A>G, NM_001302109.1:c.382A>G, NM_001352497.2:c.-569A>G, NM_001352497.1:c.-569A>G, NM_001324085.2:c.382A>G, NM_001324085.1:c.382A>G, XM_047434589.1:c.-2556A>G, XM_047434590.1:c.-1440A>G, XM_047434591.1:c.-1336A>G, XM_047434587.1:c.382A>G, XM_047434588.1:c.382A>G, NM_001324041.1:c.382A>G, NR_136686.1:n.693A>G, NR_136681.1:n.667A>G, NR_126069.1:n.498A>G, XM_047434593.1:c.382A>G, XP_011520948.1:p.Arg128Gly, XP_016879132.1:p.Arg128Gly, XP_016879134.1:p.Arg128Gly, XP_016879133.1:p.Arg128Gly, NP_001289038.1:p.Arg128Gly, NP_001311014.1:p.Arg128Gly, XP_047290543.1:p.Arg128Gly, XP_047290544.1:p.Arg128Gly, NP_001310970.1:p.Arg128Gly, XP_047290549.1:p.Arg128Gly

                            14.

                            rs1440371792 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              16:3311776 (GRCh38)
                              16:3361776 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:3311775:G:A,NC_000016.10:3311775:G:C
                              Gene:
                              ZNF75A (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000019/5 (TOPMED)
                              C=0.000029/4 (GnomAD)
                              HGVS:
                              NC_000016.10:g.3311776G>A, NC_000016.10:g.3311776G>C, NC_000016.9:g.3361776G>A, NC_000016.9:g.3361776G>C, XM_011522646.4:c.432G>A, XM_011522646.4:c.432G>C, XM_011522646.3:c.432G>A, XM_011522646.3:c.432G>C, XM_011522646.2:c.432G>A, XM_011522646.2:c.432G>C, XM_011522646.1:c.432G>A, XM_011522646.1:c.432G>C, NM_153028.4:c.-292G>A, NM_153028.4:c.-292G>C, NM_153028.3:c.-292G>A, NM_153028.3:c.-292G>C, NM_153028.2:c.-292G>A, NM_153028.2:c.-292G>C, XM_011522647.3:c.-292G>A, XM_011522647.3:c.-292G>C, XM_011522647.2:c.-292G>A, XM_011522647.2:c.-292G>C, XM_011522647.1:c.-292G>A, XM_011522647.1:c.-292G>C, XM_017023643.3:c.432G>A, XM_017023643.3:c.432G>C, XM_017023643.2:c.432G>A, XM_017023643.2:c.432G>C, XM_017023643.1:c.432G>A, XM_017023643.1:c.432G>C, XM_017023645.3:c.432G>A, XM_017023645.3:c.432G>C, XM_017023645.2:c.432G>A, XM_017023645.2:c.432G>C, XM_017023645.1:c.432G>A, XM_017023645.1:c.432G>C, XM_017023644.3:c.432G>A, XM_017023644.3:c.432G>C, XM_017023644.2:c.432G>A, XM_017023644.2:c.432G>C, XM_017023644.1:c.432G>A, XM_017023644.1:c.432G>C, NM_001352498.2:c.-519G>A, NM_001352498.2:c.-519G>C, NM_001352498.1:c.-519G>A, NM_001352498.1:c.-519G>C, NM_001302109.2:c.432G>A, NM_001302109.2:c.432G>C, NM_001302109.1:c.432G>A, NM_001302109.1:c.432G>C, NM_001352497.2:c.-519G>A, NM_001352497.2:c.-519G>C, NM_001352497.1:c.-519G>A, NM_001352497.1:c.-519G>C, NM_001324085.2:c.432G>A, NM_001324085.2:c.432G>C, NM_001324085.1:c.432G>A, NM_001324085.1:c.432G>C, NM_001352495.2:c.-519G>A, NM_001352495.2:c.-519G>C, NM_001352495.1:c.-519G>A, NM_001352495.1:c.-519G>C, XM_047434589.1:c.-292G>A, XM_047434589.1:c.-292G>C, XM_047434590.1:c.-292G>A, XM_047434590.1:c.-292G>C, XM_047434591.1:c.-292G>A, XM_047434591.1:c.-292G>C, XM_047434587.1:c.432G>A, XM_047434587.1:c.432G>C, XM_047434588.1:c.432G>A, XM_047434588.1:c.432G>C, NM_001324041.1:c.432G>A, NM_001324041.1:c.432G>C, NR_136686.1:n.743G>A, NR_136686.1:n.743G>C, NR_136681.1:n.717G>A, NR_136681.1:n.717G>C, NR_126069.1:n.548G>A, NR_126069.1:n.548G>C, XM_047434593.1:c.432G>A, XM_047434593.1:c.432G>C, XM_047434592.1:c.-292G>A, XM_047434592.1:c.-292G>C, NR_136683.1:n.193G>A, NR_136683.1:n.193G>C, XP_011520948.1:p.Lys144Asn, XP_016879132.1:p.Lys144Asn, XP_016879134.1:p.Lys144Asn, XP_016879133.1:p.Lys144Asn, NP_001289038.1:p.Lys144Asn, NP_001311014.1:p.Lys144Asn, XP_047290543.1:p.Lys144Asn, XP_047290544.1:p.Lys144Asn, NP_001310970.1:p.Lys144Asn, XP_047290549.1:p.Lys144Asn

                              15.

                              rs1438220937 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                16:3311853 (GRCh38)
                                16:3361853 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:3311852:T:C
                                Gene:
                                ZNF75A (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000224/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000223/1 (Estonian)
                                HGVS:
                                NC_000016.10:g.3311853T>C, NC_000016.9:g.3361853T>C, XM_011522646.4:c.509T>C, XM_011522646.3:c.509T>C, XM_011522646.2:c.509T>C, XM_011522646.1:c.509T>C, NM_153028.4:c.-215T>C, NM_153028.3:c.-215T>C, NM_153028.2:c.-215T>C, XM_011522647.3:c.-215T>C, XM_011522647.2:c.-215T>C, XM_011522647.1:c.-215T>C, XM_017023643.3:c.509T>C, XM_017023643.2:c.509T>C, XM_017023643.1:c.509T>C, XM_017023645.3:c.509T>C, XM_017023645.2:c.509T>C, XM_017023645.1:c.509T>C, XM_017023644.3:c.509T>C, XM_017023644.2:c.509T>C, XM_017023644.1:c.509T>C, NM_001352498.2:c.-442T>C, NM_001352498.1:c.-442T>C, NM_001302109.2:c.509T>C, NM_001302109.1:c.509T>C, NM_001352497.2:c.-442T>C, NM_001352497.1:c.-442T>C, NM_001324085.2:c.509T>C, NM_001324085.1:c.509T>C, NM_001352495.2:c.-442T>C, NM_001352495.1:c.-442T>C, XM_047434589.1:c.-215T>C, XM_047434590.1:c.-215T>C, XM_047434591.1:c.-215T>C, XM_047434587.1:c.509T>C, XM_047434588.1:c.509T>C, NM_001324041.1:c.509T>C, NR_136686.1:n.820T>C, NR_136681.1:n.794T>C, NR_126069.1:n.625T>C, XM_047434593.1:c.509T>C, XM_047434592.1:c.-215T>C, NR_136683.1:n.270T>C, XP_011520948.1:p.Val170Ala, XP_016879132.1:p.Val170Ala, XP_016879134.1:p.Val170Ala, XP_016879133.1:p.Val170Ala, NP_001289038.1:p.Val170Ala, NP_001311014.1:p.Val170Ala, XP_047290543.1:p.Val170Ala, XP_047290544.1:p.Val170Ala, NP_001310970.1:p.Val170Ala, XP_047290549.1:p.Val170Ala

                                16.

                                rs1430669237 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  16:3308640 (GRCh38)
                                  16:3358640 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:3308639:A:T
                                  Gene:
                                  ZNF75A (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000016.10:g.3308640A>T, NC_000016.9:g.3358640A>T, XM_011522646.4:c.212A>T, XM_011522646.3:c.212A>T, XM_011522646.2:c.212A>T, XM_011522646.1:c.212A>T, XM_017023643.3:c.212A>T, XM_017023643.2:c.212A>T, XM_017023643.1:c.212A>T, XM_017023645.3:c.212A>T, XM_017023645.2:c.212A>T, XM_017023645.1:c.212A>T, XM_017023644.3:c.212A>T, XM_017023644.2:c.212A>T, XM_017023644.1:c.212A>T, NM_001352498.2:c.-739A>T, NM_001352498.1:c.-739A>T, NM_001302109.2:c.212A>T, NM_001302109.1:c.212A>T, NM_001352497.2:c.-739A>T, NM_001352497.1:c.-739A>T, NM_001324085.2:c.212A>T, NM_001324085.1:c.212A>T, XM_047434589.1:c.-2726A>T, XM_047434590.1:c.-1610A>T, XM_047434591.1:c.-1506A>T, XM_047434587.1:c.212A>T, XM_047434588.1:c.212A>T, NM_001324041.1:c.212A>T, NR_136686.1:n.523A>T, NR_136681.1:n.497A>T, NR_126069.1:n.328A>T, XM_047434593.1:c.212A>T, XP_011520948.1:p.Glu71Val, XP_016879132.1:p.Glu71Val, XP_016879134.1:p.Glu71Val, XP_016879133.1:p.Glu71Val, NP_001289038.1:p.Glu71Val, NP_001311014.1:p.Glu71Val, XP_047290543.1:p.Glu71Val, XP_047290544.1:p.Glu71Val, NP_001310970.1:p.Glu71Val, XP_047290549.1:p.Glu71Val

                                  17.

                                  rs1430580903 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    16:3308443 (GRCh38)
                                    16:3358443 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:3308442:T:A
                                    Gene:
                                    ZNF75A (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000016.10:g.3308443T>A, NC_000016.9:g.3358443T>A, XM_011522646.4:c.15T>A, XM_011522646.3:c.15T>A, XM_011522646.2:c.15T>A, XM_011522646.1:c.15T>A, XM_017023643.3:c.15T>A, XM_017023643.2:c.15T>A, XM_017023643.1:c.15T>A, XM_017023645.3:c.15T>A, XM_017023645.2:c.15T>A, XM_017023645.1:c.15T>A, XM_017023644.3:c.15T>A, XM_017023644.2:c.15T>A, XM_017023644.1:c.15T>A, NM_001352498.2:c.-936T>A, NM_001352498.1:c.-936T>A, NM_001302109.2:c.15T>A, NM_001302109.1:c.15T>A, NM_001352497.2:c.-936T>A, NM_001352497.1:c.-936T>A, NM_001324085.2:c.15T>A, NM_001324085.1:c.15T>A, XM_047434589.1:c.-2923T>A, XM_047434590.1:c.-1807T>A, XM_047434591.1:c.-1703T>A, XM_047434587.1:c.15T>A, XM_047434588.1:c.15T>A, NM_001324041.1:c.15T>A, NR_136686.1:n.326T>A, NR_136681.1:n.300T>A, NR_126069.1:n.131T>A, XM_047434593.1:c.15T>A, XP_011520948.1:p.Asp5Glu, XP_016879132.1:p.Asp5Glu, XP_016879134.1:p.Asp5Glu, XP_016879133.1:p.Asp5Glu, NP_001289038.1:p.Asp5Glu, NP_001311014.1:p.Asp5Glu, XP_047290543.1:p.Asp5Glu, XP_047290544.1:p.Asp5Glu, NP_001310970.1:p.Asp5Glu, XP_047290549.1:p.Asp5Glu

                                    18.

                                    rs1428863413 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      16:3308457 (GRCh38)
                                      16:3358457 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:3308456:C:T
                                      Gene:
                                      ZNF75A (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000023/6 (TOPMED)
                                      T=0.000036/5 (GnomAD)
                                      HGVS:
                                      NC_000016.10:g.3308457C>T, NC_000016.9:g.3358457C>T, XM_011522646.4:c.29C>T, XM_011522646.3:c.29C>T, XM_011522646.2:c.29C>T, XM_011522646.1:c.29C>T, XM_017023643.3:c.29C>T, XM_017023643.2:c.29C>T, XM_017023643.1:c.29C>T, XM_017023645.3:c.29C>T, XM_017023645.2:c.29C>T, XM_017023645.1:c.29C>T, XM_017023644.3:c.29C>T, XM_017023644.2:c.29C>T, XM_017023644.1:c.29C>T, NM_001352498.2:c.-922C>T, NM_001352498.1:c.-922C>T, NM_001302109.2:c.29C>T, NM_001302109.1:c.29C>T, NM_001352497.2:c.-922C>T, NM_001352497.1:c.-922C>T, NM_001324085.2:c.29C>T, NM_001324085.1:c.29C>T, XM_047434589.1:c.-2909C>T, XM_047434590.1:c.-1793C>T, XM_047434591.1:c.-1689C>T, XM_047434587.1:c.29C>T, XM_047434588.1:c.29C>T, NM_001324041.1:c.29C>T, NR_136686.1:n.340C>T, NR_136681.1:n.314C>T, NR_126069.1:n.145C>T, XM_047434593.1:c.29C>T, XP_011520948.1:p.Ala10Val, XP_016879132.1:p.Ala10Val, XP_016879134.1:p.Ala10Val, XP_016879133.1:p.Ala10Val, NP_001289038.1:p.Ala10Val, NP_001311014.1:p.Ala10Val, XP_047290543.1:p.Ala10Val, XP_047290544.1:p.Ala10Val, NP_001310970.1:p.Ala10Val, XP_047290549.1:p.Ala10Val

                                      19.

                                      rs1428833429 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        16:3312753 (GRCh38)
                                        16:3362753 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:3312752:C:G
                                        Gene:
                                        ZNF75A (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000016.10:g.3312753C>G, NC_000016.9:g.3362753C>G, XM_011522646.4:c.681C>G, XM_011522646.3:c.681C>G, XM_011522646.2:c.681C>G, XM_011522646.1:c.681C>G, NM_153028.4:c.-43C>G, NM_153028.3:c.-43C>G, NM_153028.2:c.-43C>G, XM_011522647.3:c.-43C>G, XM_011522647.2:c.-43C>G, XM_011522647.1:c.-43C>G, XM_017023643.3:c.681C>G, XM_017023643.2:c.681C>G, XM_017023643.1:c.681C>G, XM_017023645.3:c.681C>G, XM_017023645.2:c.681C>G, XM_017023645.1:c.681C>G, XM_017023644.3:c.681C>G, XM_017023644.2:c.681C>G, XM_017023644.1:c.681C>G, NM_001352498.2:c.-270C>G, NM_001352498.1:c.-270C>G, NM_001302109.2:c.681C>G, NM_001302109.1:c.681C>G, NM_001352497.2:c.-270C>G, NM_001352497.1:c.-270C>G, NM_001324085.2:c.681C>G, NM_001324085.1:c.681C>G, NM_001352495.2:c.-270C>G, NM_001352495.1:c.-270C>G, XM_047434589.1:c.-43C>G, XM_047434590.1:c.-43C>G, XM_047434591.1:c.-43C>G, XM_047434587.1:c.681C>G, XM_047434588.1:c.681C>G, NM_001324041.1:c.681C>G, NR_136686.1:n.992C>G, NR_136681.1:n.966C>G, NR_126069.1:n.797C>G, XM_047434593.1:c.681C>G, XM_047434592.1:c.-43C>G, NR_136683.1:n.442C>G

                                        20.

                                        rs1426354705 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:3308762 (GRCh38)
                                          16:3358762 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:3308761:C:T
                                          Gene:
                                          ZNF75A (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000023/6 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.3308762C>T, NC_000016.9:g.3358762C>T, XM_011522646.4:c.334C>T, XM_011522646.3:c.334C>T, XM_011522646.2:c.334C>T, XM_011522646.1:c.334C>T, XM_017023643.3:c.334C>T, XM_017023643.2:c.334C>T, XM_017023643.1:c.334C>T, XM_017023645.3:c.334C>T, XM_017023645.2:c.334C>T, XM_017023645.1:c.334C>T, XM_017023644.3:c.334C>T, XM_017023644.2:c.334C>T, XM_017023644.1:c.334C>T, NM_001352498.2:c.-617C>T, NM_001352498.1:c.-617C>T, NM_001302109.2:c.334C>T, NM_001302109.1:c.334C>T, NM_001352497.2:c.-617C>T, NM_001352497.1:c.-617C>T, NM_001324085.2:c.334C>T, NM_001324085.1:c.334C>T, XM_047434589.1:c.-2604C>T, XM_047434590.1:c.-1488C>T, XM_047434591.1:c.-1384C>T, XM_047434587.1:c.334C>T, XM_047434588.1:c.334C>T, NM_001324041.1:c.334C>T, NR_136686.1:n.645C>T, NR_136681.1:n.619C>T, NR_126069.1:n.450C>T, XM_047434593.1:c.334C>T, XP_011520948.1:p.His112Tyr, XP_016879132.1:p.His112Tyr, XP_016879134.1:p.His112Tyr, XP_016879133.1:p.His112Tyr, NP_001289038.1:p.His112Tyr, NP_001311014.1:p.His112Tyr, XP_047290543.1:p.His112Tyr, XP_047290544.1:p.His112Tyr, NP_001310970.1:p.His112Tyr, XP_047290549.1:p.His112Tyr

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