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Items: 1 to 20 of 391

1.

rs1490818698 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    17:72947760 (GRCh38)
    17:70943899 (GRCh37)
    Canonical SPDI:
    NC_000017.11:72947759:A:C
    Gene:
    SLC39A11 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.001/3 (KOREAN)
    HGVS:
    NC_000017.11:g.72947760A>C, NC_000017.10:g.70943899A>C, XM_006721758.5:c.422T>G, XM_006721758.4:c.422T>G, XM_006721758.3:c.422T>G, XM_006721758.2:c.422T>G, XM_006721758.1:c.422T>G, XM_011524498.4:c.422T>G, XM_011524498.3:c.422T>G, XM_011524498.2:c.422T>G, XM_011524498.1:c.422T>G, XM_011524495.4:c.422T>G, XM_011524495.3:c.422T>G, XM_011524495.2:c.422T>G, XM_011524495.1:c.422T>G, NM_139177.4:c.422T>G, NM_139177.3:c.422T>G, XM_006721756.4:c.422T>G, XM_006721756.3:c.422T>G, XM_006721756.2:c.422T>G, XM_006721756.1:c.422T>G, XM_017024341.3:c.422T>G, XM_017024341.2:c.422T>G, XM_017024341.1:c.422T>G, XM_006721755.3:c.422T>G, XM_006721755.2:c.422T>G, XM_006721755.1:c.422T>G, XM_017024340.3:c.422T>G, XM_017024340.2:c.422T>G, XM_017024340.1:c.422T>G, XM_017024334.3:c.422T>G, XM_017024334.2:c.422T>G, XM_017024334.1:c.422T>G, XM_006721757.3:c.422T>G, XM_006721757.2:c.422T>G, XM_006721757.1:c.422T>G, XM_011524496.3:c.422T>G, XM_011524496.2:c.422T>G, XM_011524496.1:c.422T>G, XM_011524493.2:c.422T>G, XM_011524493.1:c.422T>G, NM_001352691.2:c.422T>G, NM_001352691.1:c.422T>G, XM_017024330.2:c.422T>G, XM_017024330.1:c.422T>G, NM_001352692.2:c.422T>G, NM_001352692.1:c.422T>G, NM_001352693.2:c.422T>G, NM_001352693.1:c.422T>G, XM_011524494.2:c.422T>G, XM_011524494.1:c.422T>G, NM_001159770.2:c.422T>G, NM_001159770.1:c.422T>G, XM_017024333.2:c.272T>G, XM_017024333.1:c.272T>G, XM_017024335.2:c.422T>G, XM_017024335.1:c.422T>G, XM_006721759.2:c.422T>G, XM_006721759.1:c.422T>G, XM_017024342.2:c.422T>G, XM_017024342.1:c.422T>G, XM_047435576.1:c.422T>G, XM_047435574.1:c.422T>G, XM_047435566.1:c.422T>G, XM_047435570.1:c.422T>G, XM_017024332.1:c.422T>G, XM_047435571.1:c.422T>G, XM_047435565.1:c.422T>G, XM_047435569.1:c.422T>G, XM_047435568.1:c.422T>G, XM_047435578.1:c.422T>G, XM_047435575.1:c.422T>G, XM_047435577.1:c.422T>G, XM_047435572.1:c.422T>G, XP_006721821.1:p.Ile141Ser, XP_011522800.1:p.Ile141Ser, XP_011522797.1:p.Ile141Ser, NP_631916.2:p.Ile141Ser, XP_006721819.1:p.Ile141Ser, XP_016879830.1:p.Ile141Ser, XP_006721818.1:p.Ile141Ser, XP_016879829.1:p.Ile141Ser, XP_016879823.1:p.Ile141Ser, XP_006721820.1:p.Ile141Ser, XP_011522798.1:p.Ile141Ser, XP_011522795.1:p.Ile141Ser, NP_001339620.1:p.Ile141Ser, XP_016879819.1:p.Ile141Ser, NP_001339621.1:p.Ile141Ser, NP_001339622.1:p.Ile141Ser, XP_011522796.1:p.Ile141Ser, NP_001153242.1:p.Ile141Ser, XP_016879822.1:p.Ile91Ser, XP_016879824.1:p.Ile141Ser, XP_006721822.1:p.Ile141Ser, XP_016879831.1:p.Ile141Ser, XP_047291532.1:p.Ile141Ser, XP_047291530.1:p.Ile141Ser, XP_047291522.1:p.Ile141Ser, XP_047291526.1:p.Ile141Ser, XP_016879821.1:p.Ile141Ser, XP_047291527.1:p.Ile141Ser, XP_047291521.1:p.Ile141Ser, XP_047291525.1:p.Ile141Ser, XP_047291524.1:p.Ile141Ser, XP_047291534.1:p.Ile141Ser, XP_047291531.1:p.Ile141Ser, XP_047291533.1:p.Ile141Ser, XP_047291528.1:p.Ile141Ser

    2.

    rs1490793907 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      17:72647609 (GRCh38)
      17:70643748 (GRCh37)
      Canonical SPDI:
      NC_000017.11:72647608:A:C
      Gene:
      SLC39A11 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000011/3 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      NC_000017.11:g.72647609A>C, NC_000017.10:g.70643748A>C, NM_139177.4:c.983T>G, NM_139177.3:c.983T>G, XM_006721755.3:c.1004T>G, XM_006721755.2:c.1004T>G, XM_006721755.1:c.1004T>G, XM_017024334.3:c.833T>G, XM_017024334.2:c.833T>G, XM_017024334.1:c.833T>G, XM_006721757.3:c.833T>G, XM_006721757.2:c.833T>G, XM_006721757.1:c.833T>G, XM_011524493.2:c.1004T>G, XM_011524493.1:c.1004T>G, NM_001352691.2:c.983T>G, NM_001352691.1:c.983T>G, XM_017024330.2:c.983T>G, XM_017024330.1:c.983T>G, NM_001352692.2:c.1004T>G, NM_001352692.1:c.1004T>G, NM_001352693.2:c.983T>G, NM_001352693.1:c.983T>G, XM_011524494.2:c.1004T>G, XM_011524494.1:c.1004T>G, NM_001159770.2:c.1004T>G, NM_001159770.1:c.1004T>G, XM_017024333.2:c.854T>G, XM_017024333.1:c.854T>G, XM_017024335.2:c.812T>G, XM_017024335.1:c.812T>G, XM_017024332.1:c.983T>G, XM_047435571.1:c.812T>G, NP_631916.2:p.Met328Arg, XP_006721818.1:p.Met335Arg, XP_016879823.1:p.Met278Arg, XP_006721820.1:p.Met278Arg, XP_011522795.1:p.Met335Arg, NP_001339620.1:p.Met328Arg, XP_016879819.1:p.Met328Arg, NP_001339621.1:p.Met335Arg, NP_001339622.1:p.Met328Arg, XP_011522796.1:p.Met335Arg, NP_001153242.1:p.Met335Arg, XP_016879822.1:p.Met285Arg, XP_016879824.1:p.Met271Arg, XP_016879821.1:p.Met328Arg, XP_047291527.1:p.Met271Arg

      3.

      rs1489842434 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:72849655 (GRCh38)
        17:70845794 (GRCh37)
        Canonical SPDI:
        NC_000017.11:72849654:T:C
        Gene:
        SLC39A11 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000017.11:g.72849655T>C, NC_000017.10:g.70845794T>C, NT_187616.1:g.16327T>C, NW_019805501.1:g.16325T>C, XM_006721758.5:c.601A>G, XM_006721758.4:c.601A>G, XM_006721758.3:c.601A>G, XM_006721758.2:c.601A>G, XM_006721758.1:c.601A>G, XM_011524498.4:c.601A>G, XM_011524498.3:c.601A>G, XM_011524498.2:c.601A>G, XM_011524498.1:c.601A>G, XM_011524495.4:c.601A>G, XM_011524495.3:c.601A>G, XM_011524495.2:c.601A>G, XM_011524495.1:c.601A>G, NM_139177.4:c.580A>G, NM_139177.3:c.580A>G, XM_006721756.4:c.601A>G, XM_006721756.3:c.601A>G, XM_006721756.2:c.601A>G, XM_006721756.1:c.601A>G, XM_017024341.3:c.580A>G, XM_017024341.2:c.580A>G, XM_017024341.1:c.580A>G, XM_006721755.3:c.601A>G, XM_006721755.2:c.601A>G, XM_006721755.1:c.601A>G, XM_017024340.3:c.580A>G, XM_017024340.2:c.580A>G, XM_017024340.1:c.580A>G, XM_011524496.3:c.601A>G, XM_011524496.2:c.601A>G, XM_011524496.1:c.601A>G, XM_011524493.2:c.601A>G, XM_011524493.1:c.601A>G, NM_001352691.2:c.580A>G, NM_001352691.1:c.580A>G, XM_017024330.2:c.580A>G, XM_017024330.1:c.580A>G, NM_001352692.2:c.601A>G, NM_001352692.1:c.601A>G, NM_001352693.2:c.580A>G, NM_001352693.1:c.580A>G, XM_011524494.2:c.601A>G, XM_011524494.1:c.601A>G, NM_001159770.2:c.601A>G, NM_001159770.1:c.601A>G, XM_017024333.2:c.451A>G, XM_017024333.1:c.451A>G, XM_006721759.2:c.601A>G, XM_006721759.1:c.601A>G, XM_017024342.2:c.580A>G, XM_017024342.1:c.580A>G, XM_047435576.1:c.580A>G, XM_047435574.1:c.601A>G, XM_047435566.1:c.601A>G, XM_047435570.1:c.580A>G, XM_017024332.1:c.580A>G, XM_047435565.1:c.601A>G, XM_047435569.1:c.580A>G, XM_047435568.1:c.580A>G, XM_047435575.1:c.601A>G, XM_047435577.1:c.580A>G, XM_047435572.1:c.580A>G, XP_006721821.1:p.Ile201Val, XP_011522800.1:p.Ile201Val, XP_011522797.1:p.Ile201Val, NP_631916.2:p.Ile194Val, XP_006721819.1:p.Ile201Val, XP_016879830.1:p.Ile194Val, XP_006721818.1:p.Ile201Val, XP_016879829.1:p.Ile194Val, XP_011522798.1:p.Ile201Val, XP_011522795.1:p.Ile201Val, NP_001339620.1:p.Ile194Val, XP_016879819.1:p.Ile194Val, NP_001339621.1:p.Ile201Val, NP_001339622.1:p.Ile194Val, XP_011522796.1:p.Ile201Val, NP_001153242.1:p.Ile201Val, XP_016879822.1:p.Ile151Val, XP_006721822.1:p.Ile201Val, XP_016879831.1:p.Ile194Val, XP_047291532.1:p.Ile194Val, XP_047291530.1:p.Ile201Val, XP_047291522.1:p.Ile201Val, XP_047291526.1:p.Ile194Val, XP_016879821.1:p.Ile194Val, XP_047291521.1:p.Ile201Val, XP_047291525.1:p.Ile194Val, XP_047291524.1:p.Ile194Val, XP_047291531.1:p.Ile201Val, XP_047291533.1:p.Ile194Val, XP_047291528.1:p.Ile194Val

        4.

        rs1486201099 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          17:72947813 (GRCh38)
          17:70943952 (GRCh37)
          Canonical SPDI:
          NC_000017.11:72947812:C:A
          Gene:
          SLC39A11 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000014/2 (GnomAD)
          HGVS:
          NC_000017.11:g.72947813C>A, NC_000017.10:g.70943952C>A, XM_006721758.5:c.369G>T, XM_006721758.4:c.369G>T, XM_006721758.3:c.369G>T, XM_006721758.2:c.369G>T, XM_006721758.1:c.369G>T, XM_011524498.4:c.369G>T, XM_011524498.3:c.369G>T, XM_011524498.2:c.369G>T, XM_011524498.1:c.369G>T, XM_011524495.4:c.369G>T, XM_011524495.3:c.369G>T, XM_011524495.2:c.369G>T, XM_011524495.1:c.369G>T, NM_139177.4:c.369G>T, NM_139177.3:c.369G>T, XM_006721756.4:c.369G>T, XM_006721756.3:c.369G>T, XM_006721756.2:c.369G>T, XM_006721756.1:c.369G>T, XM_017024341.3:c.369G>T, XM_017024341.2:c.369G>T, XM_017024341.1:c.369G>T, XM_006721755.3:c.369G>T, XM_006721755.2:c.369G>T, XM_006721755.1:c.369G>T, XM_017024340.3:c.369G>T, XM_017024340.2:c.369G>T, XM_017024340.1:c.369G>T, XM_017024334.3:c.369G>T, XM_017024334.2:c.369G>T, XM_017024334.1:c.369G>T, XM_006721757.3:c.369G>T, XM_006721757.2:c.369G>T, XM_006721757.1:c.369G>T, XM_011524496.3:c.369G>T, XM_011524496.2:c.369G>T, XM_011524496.1:c.369G>T, XM_011524493.2:c.369G>T, XM_011524493.1:c.369G>T, NM_001352691.2:c.369G>T, NM_001352691.1:c.369G>T, XM_017024330.2:c.369G>T, XM_017024330.1:c.369G>T, NM_001352692.2:c.369G>T, NM_001352692.1:c.369G>T, NM_001352693.2:c.369G>T, NM_001352693.1:c.369G>T, XM_011524494.2:c.369G>T, XM_011524494.1:c.369G>T, NM_001159770.2:c.369G>T, NM_001159770.1:c.369G>T, XM_017024333.2:c.219G>T, XM_017024333.1:c.219G>T, XM_017024335.2:c.369G>T, XM_017024335.1:c.369G>T, XM_006721759.2:c.369G>T, XM_006721759.1:c.369G>T, XM_017024342.2:c.369G>T, XM_017024342.1:c.369G>T, XM_047435576.1:c.369G>T, XM_047435574.1:c.369G>T, XM_047435566.1:c.369G>T, XM_047435570.1:c.369G>T, XM_017024332.1:c.369G>T, XM_047435571.1:c.369G>T, XM_047435565.1:c.369G>T, XM_047435569.1:c.369G>T, XM_047435568.1:c.369G>T, XM_047435578.1:c.369G>T, XM_047435575.1:c.369G>T, XM_047435577.1:c.369G>T, XM_047435572.1:c.369G>T, XP_006721821.1:p.Lys123Asn, XP_011522800.1:p.Lys123Asn, XP_011522797.1:p.Lys123Asn, NP_631916.2:p.Lys123Asn, XP_006721819.1:p.Lys123Asn, XP_016879830.1:p.Lys123Asn, XP_006721818.1:p.Lys123Asn, XP_016879829.1:p.Lys123Asn, XP_016879823.1:p.Lys123Asn, XP_006721820.1:p.Lys123Asn, XP_011522798.1:p.Lys123Asn, XP_011522795.1:p.Lys123Asn, NP_001339620.1:p.Lys123Asn, XP_016879819.1:p.Lys123Asn, NP_001339621.1:p.Lys123Asn, NP_001339622.1:p.Lys123Asn, XP_011522796.1:p.Lys123Asn, NP_001153242.1:p.Lys123Asn, XP_016879822.1:p.Lys73Asn, XP_016879824.1:p.Lys123Asn, XP_006721822.1:p.Lys123Asn, XP_016879831.1:p.Lys123Asn, XP_047291532.1:p.Lys123Asn, XP_047291530.1:p.Lys123Asn, XP_047291522.1:p.Lys123Asn, XP_047291526.1:p.Lys123Asn, XP_016879821.1:p.Lys123Asn, XP_047291527.1:p.Lys123Asn, XP_047291521.1:p.Lys123Asn, XP_047291525.1:p.Lys123Asn, XP_047291524.1:p.Lys123Asn, XP_047291534.1:p.Lys123Asn, XP_047291531.1:p.Lys123Asn, XP_047291533.1:p.Lys123Asn, XP_047291528.1:p.Lys123Asn

          5.

          rs1483381872 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            17:72849722 (GRCh38)
            17:70845861 (GRCh37)
            Canonical SPDI:
            NC_000017.11:72849721:A:C
            Gene:
            SLC39A11 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000111/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.72849722A>C, NC_000017.10:g.70845861A>C, NT_187616.1:g.16394A>C, NW_019805501.1:g.16392A>C, XM_006721758.5:c.534T>G, XM_006721758.4:c.534T>G, XM_006721758.3:c.534T>G, XM_006721758.2:c.534T>G, XM_006721758.1:c.534T>G, XM_011524498.4:c.534T>G, XM_011524498.3:c.534T>G, XM_011524498.2:c.534T>G, XM_011524498.1:c.534T>G, XM_011524495.4:c.534T>G, XM_011524495.3:c.534T>G, XM_011524495.2:c.534T>G, XM_011524495.1:c.534T>G, NM_139177.4:c.513T>G, NM_139177.3:c.513T>G, XM_006721756.4:c.534T>G, XM_006721756.3:c.534T>G, XM_006721756.2:c.534T>G, XM_006721756.1:c.534T>G, XM_017024341.3:c.513T>G, XM_017024341.2:c.513T>G, XM_017024341.1:c.513T>G, XM_006721755.3:c.534T>G, XM_006721755.2:c.534T>G, XM_006721755.1:c.534T>G, XM_017024340.3:c.513T>G, XM_017024340.2:c.513T>G, XM_017024340.1:c.513T>G, XM_011524496.3:c.534T>G, XM_011524496.2:c.534T>G, XM_011524496.1:c.534T>G, XM_011524493.2:c.534T>G, XM_011524493.1:c.534T>G, NM_001352691.2:c.513T>G, NM_001352691.1:c.513T>G, XM_017024330.2:c.513T>G, XM_017024330.1:c.513T>G, NM_001352692.2:c.534T>G, NM_001352692.1:c.534T>G, NM_001352693.2:c.513T>G, NM_001352693.1:c.513T>G, XM_011524494.2:c.534T>G, XM_011524494.1:c.534T>G, NM_001159770.2:c.534T>G, NM_001159770.1:c.534T>G, XM_017024333.2:c.384T>G, XM_017024333.1:c.384T>G, XM_006721759.2:c.534T>G, XM_006721759.1:c.534T>G, XM_017024342.2:c.513T>G, XM_017024342.1:c.513T>G, XM_047435576.1:c.513T>G, XM_047435574.1:c.534T>G, XM_047435566.1:c.534T>G, XM_047435570.1:c.513T>G, XM_017024332.1:c.513T>G, XM_047435565.1:c.534T>G, XM_047435569.1:c.513T>G, XM_047435568.1:c.513T>G, XM_047435575.1:c.534T>G, XM_047435577.1:c.513T>G, XM_047435572.1:c.513T>G

            6.

            rs1481423925 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:73031593 (GRCh38)
              17:71027732 (GRCh37)
              Canonical SPDI:
              NC_000017.11:73031592:G:A
              Gene:
              SLC39A11 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.73031593G>A, NC_000017.10:g.71027732G>A, XM_006721758.5:c.269C>T, XM_006721758.4:c.269C>T, XM_006721758.3:c.269C>T, XM_006721758.2:c.269C>T, XM_006721758.1:c.269C>T, XM_011524498.4:c.269C>T, XM_011524498.3:c.269C>T, XM_011524498.2:c.269C>T, XM_011524498.1:c.269C>T, XM_011524495.4:c.269C>T, XM_011524495.3:c.269C>T, XM_011524495.2:c.269C>T, XM_011524495.1:c.269C>T, NM_139177.4:c.269C>T, NM_139177.3:c.269C>T, XM_006721756.4:c.269C>T, XM_006721756.3:c.269C>T, XM_006721756.2:c.269C>T, XM_006721756.1:c.269C>T, XM_017024341.3:c.269C>T, XM_017024341.2:c.269C>T, XM_017024341.1:c.269C>T, XM_006721755.3:c.269C>T, XM_006721755.2:c.269C>T, XM_006721755.1:c.269C>T, XM_017024340.3:c.269C>T, XM_017024340.2:c.269C>T, XM_017024340.1:c.269C>T, XM_017024334.3:c.269C>T, XM_017024334.2:c.269C>T, XM_017024334.1:c.269C>T, XM_006721757.3:c.269C>T, XM_006721757.2:c.269C>T, XM_006721757.1:c.269C>T, XM_011524496.3:c.269C>T, XM_011524496.2:c.269C>T, XM_011524496.1:c.269C>T, XM_011524493.2:c.269C>T, XM_011524493.1:c.269C>T, NM_001352691.2:c.269C>T, NM_001352691.1:c.269C>T, XM_017024330.2:c.269C>T, XM_017024330.1:c.269C>T, NM_001352692.2:c.269C>T, NM_001352692.1:c.269C>T, NM_001352693.2:c.269C>T, NM_001352693.1:c.269C>T, XM_011524494.2:c.269C>T, XM_011524494.1:c.269C>T, NM_001159770.2:c.269C>T, NM_001159770.1:c.269C>T, XM_017024333.2:c.119C>T, XM_017024333.1:c.119C>T, XM_017024335.2:c.269C>T, XM_017024335.1:c.269C>T, XM_006721759.2:c.269C>T, XM_006721759.1:c.269C>T, XM_017024342.2:c.269C>T, XM_017024342.1:c.269C>T, XM_047435576.1:c.269C>T, XM_047435574.1:c.269C>T, XM_047435566.1:c.269C>T, XM_047435570.1:c.269C>T, XM_017024332.1:c.269C>T, XM_047435571.1:c.269C>T, XM_047435565.1:c.269C>T, XM_047435569.1:c.269C>T, XM_047435568.1:c.269C>T, XM_047435578.1:c.269C>T, XM_047435575.1:c.269C>T, XM_047435577.1:c.269C>T, XM_047435572.1:c.269C>T, XP_006721821.1:p.Ala90Val, XP_011522800.1:p.Ala90Val, XP_011522797.1:p.Ala90Val, NP_631916.2:p.Ala90Val, XP_006721819.1:p.Ala90Val, XP_016879830.1:p.Ala90Val, XP_006721818.1:p.Ala90Val, XP_016879829.1:p.Ala90Val, XP_016879823.1:p.Ala90Val, XP_006721820.1:p.Ala90Val, XP_011522798.1:p.Ala90Val, XP_011522795.1:p.Ala90Val, NP_001339620.1:p.Ala90Val, XP_016879819.1:p.Ala90Val, NP_001339621.1:p.Ala90Val, NP_001339622.1:p.Ala90Val, XP_011522796.1:p.Ala90Val, NP_001153242.1:p.Ala90Val, XP_016879822.1:p.Ala40Val, XP_016879824.1:p.Ala90Val, XP_006721822.1:p.Ala90Val, XP_016879831.1:p.Ala90Val, XP_047291532.1:p.Ala90Val, XP_047291530.1:p.Ala90Val, XP_047291522.1:p.Ala90Val, XP_047291526.1:p.Ala90Val, XP_016879821.1:p.Ala90Val, XP_047291527.1:p.Ala90Val, XP_047291521.1:p.Ala90Val, XP_047291525.1:p.Ala90Val, XP_047291524.1:p.Ala90Val, XP_047291534.1:p.Ala90Val, XP_047291531.1:p.Ala90Val, XP_047291533.1:p.Ala90Val, XP_047291528.1:p.Ala90Val

              7.

              rs1480188662 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:72649260 (GRCh38)
                17:70645399 (GRCh37)
                Canonical SPDI:
                NC_000017.11:72649259:G:A
                Gene:
                SLC39A11 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                HGVS:
                NC_000017.11:g.72649260G>A, NC_000017.10:g.70645399G>A, NM_139177.4:c.680C>T, NM_139177.3:c.680C>T, XM_006721755.3:c.701C>T, XM_006721755.2:c.701C>T, XM_006721755.1:c.701C>T, XM_017024334.3:c.530C>T, XM_017024334.2:c.530C>T, XM_017024334.1:c.530C>T, XM_006721757.3:c.530C>T, XM_006721757.2:c.530C>T, XM_006721757.1:c.530C>T, XM_011524493.2:c.701C>T, XM_011524493.1:c.701C>T, NM_001352691.2:c.680C>T, NM_001352691.1:c.680C>T, XM_017024330.2:c.680C>T, XM_017024330.1:c.680C>T, NM_001352692.2:c.701C>T, NM_001352692.1:c.701C>T, NM_001352693.2:c.680C>T, NM_001352693.1:c.680C>T, XM_011524494.2:c.701C>T, XM_011524494.1:c.701C>T, NM_001159770.2:c.701C>T, NM_001159770.1:c.701C>T, XM_017024333.2:c.551C>T, XM_017024333.1:c.551C>T, XM_017024335.2:c.509C>T, XM_017024335.1:c.509C>T, XM_017024332.1:c.680C>T, XM_047435571.1:c.509C>T, NP_631916.2:p.Ala227Val, XP_006721818.1:p.Ala234Val, XP_016879823.1:p.Ala177Val, XP_006721820.1:p.Ala177Val, XP_011522795.1:p.Ala234Val, NP_001339620.1:p.Ala227Val, XP_016879819.1:p.Ala227Val, NP_001339621.1:p.Ala234Val, NP_001339622.1:p.Ala227Val, XP_011522796.1:p.Ala234Val, NP_001153242.1:p.Ala234Val, XP_016879822.1:p.Ala184Val, XP_016879824.1:p.Ala170Val, XP_016879821.1:p.Ala227Val, XP_047291527.1:p.Ala170Val

                8.

                rs1477786270 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  17:73084808 (GRCh38)
                  17:71080947 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:73084807:C:G,NC_000017.11:73084807:C:T
                  Gene:
                  SLC39A11 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000012/3 (GnomAD_exomes)
                  T=0.000029/4 (GnomAD)
                  HGVS:
                  NC_000017.11:g.73084808C>G, NC_000017.11:g.73084808C>T, NC_000017.10:g.71080947C>G, NC_000017.10:g.71080947C>T, XM_006721758.5:c.147G>C, XM_006721758.5:c.147G>A, XM_006721758.4:c.147G>C, XM_006721758.4:c.147G>A, XM_006721758.3:c.147G>C, XM_006721758.3:c.147G>A, XM_006721758.2:c.147G>C, XM_006721758.2:c.147G>A, XM_006721758.1:c.147G>C, XM_006721758.1:c.147G>A, XM_011524498.4:c.147G>C, XM_011524498.4:c.147G>A, XM_011524498.3:c.147G>C, XM_011524498.3:c.147G>A, XM_011524498.2:c.147G>C, XM_011524498.2:c.147G>A, XM_011524498.1:c.147G>C, XM_011524498.1:c.147G>A, XM_011524495.4:c.147G>C, XM_011524495.4:c.147G>A, XM_011524495.3:c.147G>C, XM_011524495.3:c.147G>A, XM_011524495.2:c.147G>C, XM_011524495.2:c.147G>A, XM_011524495.1:c.147G>C, XM_011524495.1:c.147G>A, NM_139177.4:c.147G>C, NM_139177.4:c.147G>A, NM_139177.3:c.147G>C, NM_139177.3:c.147G>A, XM_006721756.4:c.147G>C, XM_006721756.4:c.147G>A, XM_006721756.3:c.147G>C, XM_006721756.3:c.147G>A, XM_006721756.2:c.147G>C, XM_006721756.2:c.147G>A, XM_006721756.1:c.147G>C, XM_006721756.1:c.147G>A, XM_017024341.3:c.147G>C, XM_017024341.3:c.147G>A, XM_017024341.2:c.147G>C, XM_017024341.2:c.147G>A, XM_017024341.1:c.147G>C, XM_017024341.1:c.147G>A, XM_006721755.3:c.147G>C, XM_006721755.3:c.147G>A, XM_006721755.2:c.147G>C, XM_006721755.2:c.147G>A, XM_006721755.1:c.147G>C, XM_006721755.1:c.147G>A, XM_017024340.3:c.147G>C, XM_017024340.3:c.147G>A, XM_017024340.2:c.147G>C, XM_017024340.2:c.147G>A, XM_017024340.1:c.147G>C, XM_017024340.1:c.147G>A, XM_017024334.3:c.147G>C, XM_017024334.3:c.147G>A, XM_017024334.2:c.147G>C, XM_017024334.2:c.147G>A, XM_017024334.1:c.147G>C, XM_017024334.1:c.147G>A, XM_006721757.3:c.147G>C, XM_006721757.3:c.147G>A, XM_006721757.2:c.147G>C, XM_006721757.2:c.147G>A, XM_006721757.1:c.147G>C, XM_006721757.1:c.147G>A, XM_011524496.3:c.147G>C, XM_011524496.3:c.147G>A, XM_011524496.2:c.147G>C, XM_011524496.2:c.147G>A, XM_011524496.1:c.147G>C, XM_011524496.1:c.147G>A, XM_011524493.2:c.147G>C, XM_011524493.2:c.147G>A, XM_011524493.1:c.147G>C, XM_011524493.1:c.147G>A, NM_001352691.2:c.147G>C, NM_001352691.2:c.147G>A, NM_001352691.1:c.147G>C, NM_001352691.1:c.147G>A, XM_017024330.2:c.147G>C, XM_017024330.2:c.147G>A, XM_017024330.1:c.147G>C, XM_017024330.1:c.147G>A, NM_001352692.2:c.147G>C, NM_001352692.2:c.147G>A, NM_001352692.1:c.147G>C, NM_001352692.1:c.147G>A, NM_001352693.2:c.147G>C, NM_001352693.2:c.147G>A, NM_001352693.1:c.147G>C, NM_001352693.1:c.147G>A, XM_011524494.2:c.147G>C, XM_011524494.2:c.147G>A, XM_011524494.1:c.147G>C, XM_011524494.1:c.147G>A, NM_001159770.2:c.147G>C, NM_001159770.2:c.147G>A, NM_001159770.1:c.147G>C, NM_001159770.1:c.147G>A, XM_017024333.2:c.-173G>C, XM_017024333.2:c.-173G>A, XM_017024333.1:c.-173G>C, XM_017024333.1:c.-173G>A, XM_017024335.2:c.147G>C, XM_017024335.2:c.147G>A, XM_017024335.1:c.147G>C, XM_017024335.1:c.147G>A, XM_006721759.2:c.147G>C, XM_006721759.2:c.147G>A, XM_006721759.1:c.147G>C, XM_006721759.1:c.147G>A, XM_017024342.2:c.147G>C, XM_017024342.2:c.147G>A, XM_017024342.1:c.147G>C, XM_017024342.1:c.147G>A, XM_047435576.1:c.147G>C, XM_047435576.1:c.147G>A, XM_047435574.1:c.147G>C, XM_047435574.1:c.147G>A, XM_047435566.1:c.147G>C, XM_047435566.1:c.147G>A, XM_047435570.1:c.147G>C, XM_047435570.1:c.147G>A, XM_017024332.1:c.147G>C, XM_017024332.1:c.147G>A, XM_047435571.1:c.147G>C, XM_047435571.1:c.147G>A, XM_047435565.1:c.147G>C, XM_047435565.1:c.147G>A, XM_047435569.1:c.147G>C, XM_047435569.1:c.147G>A, XM_047435568.1:c.147G>C, XM_047435568.1:c.147G>A, XM_047435578.1:c.147G>C, XM_047435578.1:c.147G>A, XM_047435575.1:c.147G>C, XM_047435575.1:c.147G>A, XM_047435577.1:c.147G>C, XM_047435577.1:c.147G>A, XM_047435572.1:c.147G>C, XM_047435572.1:c.147G>A

                  9.

                  rs1477311058 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:73088727 (GRCh38)
                    17:71084866 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:73088726:A:G
                    Gene:
                    SLC39A11 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000017.11:g.73088727A>G, NC_000017.10:g.71084866A>G, XM_006721758.5:c.38T>C, XM_006721758.4:c.38T>C, XM_006721758.3:c.38T>C, XM_006721758.2:c.38T>C, XM_006721758.1:c.38T>C, XM_011524498.4:c.38T>C, XM_011524498.3:c.38T>C, XM_011524498.2:c.38T>C, XM_011524498.1:c.38T>C, XM_011524495.4:c.38T>C, XM_011524495.3:c.38T>C, XM_011524495.2:c.38T>C, XM_011524495.1:c.38T>C, NM_139177.4:c.38T>C, NM_139177.3:c.38T>C, XM_006721756.4:c.38T>C, XM_006721756.3:c.38T>C, XM_006721756.2:c.38T>C, XM_006721756.1:c.38T>C, XM_017024341.3:c.38T>C, XM_017024341.2:c.38T>C, XM_017024341.1:c.38T>C, XM_006721755.3:c.38T>C, XM_006721755.2:c.38T>C, XM_006721755.1:c.38T>C, XM_017024340.3:c.38T>C, XM_017024340.2:c.38T>C, XM_017024340.1:c.38T>C, XM_017024334.3:c.38T>C, XM_017024334.2:c.38T>C, XM_017024334.1:c.38T>C, XM_006721757.3:c.38T>C, XM_006721757.2:c.38T>C, XM_006721757.1:c.38T>C, XM_011524496.3:c.38T>C, XM_011524496.2:c.38T>C, XM_011524496.1:c.38T>C, XM_011524493.2:c.38T>C, XM_011524493.1:c.38T>C, NM_001352691.2:c.38T>C, NM_001352691.1:c.38T>C, XM_017024330.2:c.38T>C, XM_017024330.1:c.38T>C, NM_001352692.2:c.38T>C, NM_001352692.1:c.38T>C, NM_001352693.2:c.38T>C, NM_001352693.1:c.38T>C, XM_011524494.2:c.38T>C, XM_011524494.1:c.38T>C, NM_001159770.2:c.38T>C, NM_001159770.1:c.38T>C, XM_017024335.2:c.38T>C, XM_017024335.1:c.38T>C, XM_006721759.2:c.38T>C, XM_006721759.1:c.38T>C, XM_017024342.2:c.38T>C, XM_017024342.1:c.38T>C, XM_047435576.1:c.38T>C, XM_047435574.1:c.38T>C, XM_047435566.1:c.38T>C, XM_047435570.1:c.38T>C, XM_017024332.1:c.38T>C, XM_047435571.1:c.38T>C, XM_047435565.1:c.38T>C, XM_047435569.1:c.38T>C, XM_047435568.1:c.38T>C, XM_047435578.1:c.38T>C, XM_047435575.1:c.38T>C, XM_047435577.1:c.38T>C, XM_047435572.1:c.38T>C, XP_006721821.1:p.Leu13Pro, XP_011522800.1:p.Leu13Pro, XP_011522797.1:p.Leu13Pro, NP_631916.2:p.Leu13Pro, XP_006721819.1:p.Leu13Pro, XP_016879830.1:p.Leu13Pro, XP_006721818.1:p.Leu13Pro, XP_016879829.1:p.Leu13Pro, XP_016879823.1:p.Leu13Pro, XP_006721820.1:p.Leu13Pro, XP_011522798.1:p.Leu13Pro, XP_011522795.1:p.Leu13Pro, NP_001339620.1:p.Leu13Pro, XP_016879819.1:p.Leu13Pro, NP_001339621.1:p.Leu13Pro, NP_001339622.1:p.Leu13Pro, XP_011522796.1:p.Leu13Pro, NP_001153242.1:p.Leu13Pro, XP_016879824.1:p.Leu13Pro, XP_006721822.1:p.Leu13Pro, XP_016879831.1:p.Leu13Pro, XP_047291532.1:p.Leu13Pro, XP_047291530.1:p.Leu13Pro, XP_047291522.1:p.Leu13Pro, XP_047291526.1:p.Leu13Pro, XP_016879821.1:p.Leu13Pro, XP_047291527.1:p.Leu13Pro, XP_047291521.1:p.Leu13Pro, XP_047291525.1:p.Leu13Pro, XP_047291524.1:p.Leu13Pro, XP_047291534.1:p.Leu13Pro, XP_047291531.1:p.Leu13Pro, XP_047291533.1:p.Leu13Pro, XP_047291528.1:p.Leu13Pro

                    10.

                    rs1476786199 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:72947872 (GRCh38)
                      17:70944011 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:72947871:C:T
                      Gene:
                      SLC39A11 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000017.11:g.72947872C>T, NC_000017.10:g.70944011C>T, XM_006721758.5:c.310G>A, XM_006721758.4:c.310G>A, XM_006721758.3:c.310G>A, XM_006721758.2:c.310G>A, XM_006721758.1:c.310G>A, XM_011524498.4:c.310G>A, XM_011524498.3:c.310G>A, XM_011524498.2:c.310G>A, XM_011524498.1:c.310G>A, XM_011524495.4:c.310G>A, XM_011524495.3:c.310G>A, XM_011524495.2:c.310G>A, XM_011524495.1:c.310G>A, NM_139177.4:c.310G>A, NM_139177.3:c.310G>A, XM_006721756.4:c.310G>A, XM_006721756.3:c.310G>A, XM_006721756.2:c.310G>A, XM_006721756.1:c.310G>A, XM_017024341.3:c.310G>A, XM_017024341.2:c.310G>A, XM_017024341.1:c.310G>A, XM_006721755.3:c.310G>A, XM_006721755.2:c.310G>A, XM_006721755.1:c.310G>A, XM_017024340.3:c.310G>A, XM_017024340.2:c.310G>A, XM_017024340.1:c.310G>A, XM_017024334.3:c.310G>A, XM_017024334.2:c.310G>A, XM_017024334.1:c.310G>A, XM_006721757.3:c.310G>A, XM_006721757.2:c.310G>A, XM_006721757.1:c.310G>A, XM_011524496.3:c.310G>A, XM_011524496.2:c.310G>A, XM_011524496.1:c.310G>A, XM_011524493.2:c.310G>A, XM_011524493.1:c.310G>A, NM_001352691.2:c.310G>A, NM_001352691.1:c.310G>A, XM_017024330.2:c.310G>A, XM_017024330.1:c.310G>A, NM_001352692.2:c.310G>A, NM_001352692.1:c.310G>A, NM_001352693.2:c.310G>A, NM_001352693.1:c.310G>A, XM_011524494.2:c.310G>A, XM_011524494.1:c.310G>A, NM_001159770.2:c.310G>A, NM_001159770.1:c.310G>A, XM_017024333.2:c.160G>A, XM_017024333.1:c.160G>A, XM_017024335.2:c.310G>A, XM_017024335.1:c.310G>A, XM_006721759.2:c.310G>A, XM_006721759.1:c.310G>A, XM_017024342.2:c.310G>A, XM_017024342.1:c.310G>A, XM_047435576.1:c.310G>A, XM_047435574.1:c.310G>A, XM_047435566.1:c.310G>A, XM_047435570.1:c.310G>A, XM_017024332.1:c.310G>A, XM_047435571.1:c.310G>A, XM_047435565.1:c.310G>A, XM_047435569.1:c.310G>A, XM_047435568.1:c.310G>A, XM_047435578.1:c.310G>A, XM_047435575.1:c.310G>A, XM_047435577.1:c.310G>A, XM_047435572.1:c.310G>A, XP_006721821.1:p.Ala104Thr, XP_011522800.1:p.Ala104Thr, XP_011522797.1:p.Ala104Thr, NP_631916.2:p.Ala104Thr, XP_006721819.1:p.Ala104Thr, XP_016879830.1:p.Ala104Thr, XP_006721818.1:p.Ala104Thr, XP_016879829.1:p.Ala104Thr, XP_016879823.1:p.Ala104Thr, XP_006721820.1:p.Ala104Thr, XP_011522798.1:p.Ala104Thr, XP_011522795.1:p.Ala104Thr, NP_001339620.1:p.Ala104Thr, XP_016879819.1:p.Ala104Thr, NP_001339621.1:p.Ala104Thr, NP_001339622.1:p.Ala104Thr, XP_011522796.1:p.Ala104Thr, NP_001153242.1:p.Ala104Thr, XP_016879822.1:p.Ala54Thr, XP_016879824.1:p.Ala104Thr, XP_006721822.1:p.Ala104Thr, XP_016879831.1:p.Ala104Thr, XP_047291532.1:p.Ala104Thr, XP_047291530.1:p.Ala104Thr, XP_047291522.1:p.Ala104Thr, XP_047291526.1:p.Ala104Thr, XP_016879821.1:p.Ala104Thr, XP_047291527.1:p.Ala104Thr, XP_047291521.1:p.Ala104Thr, XP_047291525.1:p.Ala104Thr, XP_047291524.1:p.Ala104Thr, XP_047291534.1:p.Ala104Thr, XP_047291531.1:p.Ala104Thr, XP_047291533.1:p.Ala104Thr, XP_047291528.1:p.Ala104Thr

                      11.

                      rs1476685931 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G,T [Show Flanks]
                        Chromosome:
                        17:72849797 (GRCh38)
                        17:70845936 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:72849796:A:C,NC_000017.11:72849796:A:G,NC_000017.11:72849796:A:T
                        Gene:
                        SLC39A11 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        T=0.001012/1 (Korea1K)
                        C=0.001416/24 (TOMMO)
                        C=0.019863/58 (KOREAN)
                        HGVS:
                        NC_000017.11:g.72849797A>C, NC_000017.11:g.72849797A>G, NC_000017.11:g.72849797A>T, NC_000017.10:g.70845936A>C, NC_000017.10:g.70845936A>G, NC_000017.10:g.70845936A>T, NT_187616.1:g.16469A>C, NT_187616.1:g.16469A>G, NT_187616.1:g.16469A>T, NW_019805501.1:g.16467A>C, NW_019805501.1:g.16467A>G, NW_019805501.1:g.16467A>T, XM_006721758.5:c.459T>G, XM_006721758.5:c.459T>C, XM_006721758.5:c.459T>A, XM_006721758.4:c.459T>G, XM_006721758.4:c.459T>C, XM_006721758.4:c.459T>A, XM_006721758.3:c.459T>G, XM_006721758.3:c.459T>C, XM_006721758.3:c.459T>A, XM_006721758.2:c.459T>G, XM_006721758.2:c.459T>C, XM_006721758.2:c.459T>A, XM_006721758.1:c.459T>G, XM_006721758.1:c.459T>C, XM_006721758.1:c.459T>A, XM_011524498.4:c.459T>G, XM_011524498.4:c.459T>C, XM_011524498.4:c.459T>A, XM_011524498.3:c.459T>G, XM_011524498.3:c.459T>C, XM_011524498.3:c.459T>A, XM_011524498.2:c.459T>G, XM_011524498.2:c.459T>C, XM_011524498.2:c.459T>A, XM_011524498.1:c.459T>G, XM_011524498.1:c.459T>C, XM_011524498.1:c.459T>A, XM_011524495.4:c.459T>G, XM_011524495.4:c.459T>C, XM_011524495.4:c.459T>A, XM_011524495.3:c.459T>G, XM_011524495.3:c.459T>C, XM_011524495.3:c.459T>A, XM_011524495.2:c.459T>G, XM_011524495.2:c.459T>C, XM_011524495.2:c.459T>A, XM_011524495.1:c.459T>G, XM_011524495.1:c.459T>C, XM_011524495.1:c.459T>A, NM_139177.4:c.438T>G, NM_139177.4:c.438T>C, NM_139177.4:c.438T>A, NM_139177.3:c.438T>G, NM_139177.3:c.438T>C, NM_139177.3:c.438T>A, XM_006721756.4:c.459T>G, XM_006721756.4:c.459T>C, XM_006721756.4:c.459T>A, XM_006721756.3:c.459T>G, XM_006721756.3:c.459T>C, XM_006721756.3:c.459T>A, XM_006721756.2:c.459T>G, XM_006721756.2:c.459T>C, XM_006721756.2:c.459T>A, XM_006721756.1:c.459T>G, XM_006721756.1:c.459T>C, XM_006721756.1:c.459T>A, XM_017024341.3:c.438T>G, XM_017024341.3:c.438T>C, XM_017024341.3:c.438T>A, XM_017024341.2:c.438T>G, XM_017024341.2:c.438T>C, XM_017024341.2:c.438T>A, XM_017024341.1:c.438T>G, XM_017024341.1:c.438T>C, XM_017024341.1:c.438T>A, XM_006721755.3:c.459T>G, XM_006721755.3:c.459T>C, XM_006721755.3:c.459T>A, XM_006721755.2:c.459T>G, XM_006721755.2:c.459T>C, XM_006721755.2:c.459T>A, XM_006721755.1:c.459T>G, XM_006721755.1:c.459T>C, XM_006721755.1:c.459T>A, XM_017024340.3:c.438T>G, XM_017024340.3:c.438T>C, XM_017024340.3:c.438T>A, XM_017024340.2:c.438T>G, XM_017024340.2:c.438T>C, XM_017024340.2:c.438T>A, XM_017024340.1:c.438T>G, XM_017024340.1:c.438T>C, XM_017024340.1:c.438T>A, XM_011524496.3:c.459T>G, XM_011524496.3:c.459T>C, XM_011524496.3:c.459T>A, XM_011524496.2:c.459T>G, XM_011524496.2:c.459T>C, XM_011524496.2:c.459T>A, XM_011524496.1:c.459T>G, XM_011524496.1:c.459T>C, XM_011524496.1:c.459T>A, XM_011524493.2:c.459T>G, XM_011524493.2:c.459T>C, XM_011524493.2:c.459T>A, XM_011524493.1:c.459T>G, XM_011524493.1:c.459T>C, XM_011524493.1:c.459T>A, NM_001352691.2:c.438T>G, NM_001352691.2:c.438T>C, NM_001352691.2:c.438T>A, NM_001352691.1:c.438T>G, NM_001352691.1:c.438T>C, NM_001352691.1:c.438T>A, XM_017024330.2:c.438T>G, XM_017024330.2:c.438T>C, XM_017024330.2:c.438T>A, XM_017024330.1:c.438T>G, XM_017024330.1:c.438T>C, XM_017024330.1:c.438T>A, NM_001352692.2:c.459T>G, NM_001352692.2:c.459T>C, NM_001352692.2:c.459T>A, NM_001352692.1:c.459T>G, NM_001352692.1:c.459T>C, NM_001352692.1:c.459T>A, NM_001352693.2:c.438T>G, NM_001352693.2:c.438T>C, NM_001352693.2:c.438T>A, NM_001352693.1:c.438T>G, NM_001352693.1:c.438T>C, NM_001352693.1:c.438T>A, XM_011524494.2:c.459T>G, XM_011524494.2:c.459T>C, XM_011524494.2:c.459T>A, XM_011524494.1:c.459T>G, XM_011524494.1:c.459T>C, XM_011524494.1:c.459T>A, NM_001159770.2:c.459T>G, NM_001159770.2:c.459T>C, NM_001159770.2:c.459T>A, NM_001159770.1:c.459T>G, NM_001159770.1:c.459T>C, NM_001159770.1:c.459T>A, XM_017024333.2:c.309T>G, XM_017024333.2:c.309T>C, XM_017024333.2:c.309T>A, XM_017024333.1:c.309T>G, XM_017024333.1:c.309T>C, XM_017024333.1:c.309T>A, XM_006721759.2:c.459T>G, XM_006721759.2:c.459T>C, XM_006721759.2:c.459T>A, XM_006721759.1:c.459T>G, XM_006721759.1:c.459T>C, XM_006721759.1:c.459T>A, XM_017024342.2:c.438T>G, XM_017024342.2:c.438T>C, XM_017024342.2:c.438T>A, XM_017024342.1:c.438T>G, XM_017024342.1:c.438T>C, XM_017024342.1:c.438T>A, XM_047435576.1:c.438T>G, XM_047435576.1:c.438T>C, XM_047435576.1:c.438T>A, XM_047435574.1:c.459T>G, XM_047435574.1:c.459T>C, XM_047435574.1:c.459T>A, XM_047435566.1:c.459T>G, XM_047435566.1:c.459T>C, XM_047435566.1:c.459T>A, XM_047435570.1:c.438T>G, XM_047435570.1:c.438T>C, XM_047435570.1:c.438T>A, XM_017024332.1:c.438T>G, XM_017024332.1:c.438T>C, XM_017024332.1:c.438T>A, XM_047435565.1:c.459T>G, XM_047435565.1:c.459T>C, XM_047435565.1:c.459T>A, XM_047435569.1:c.438T>G, XM_047435569.1:c.438T>C, XM_047435569.1:c.438T>A, XM_047435568.1:c.438T>G, XM_047435568.1:c.438T>C, XM_047435568.1:c.438T>A, XM_047435575.1:c.459T>G, XM_047435575.1:c.459T>C, XM_047435575.1:c.459T>A, XM_047435577.1:c.438T>G, XM_047435577.1:c.438T>C, XM_047435577.1:c.438T>A, XM_047435572.1:c.438T>G, XM_047435572.1:c.438T>C, XM_047435572.1:c.438T>A, XP_006721821.1:p.Ser153Arg, XP_006721821.1:p.Ser153Arg, XP_011522800.1:p.Ser153Arg, XP_011522800.1:p.Ser153Arg, XP_011522797.1:p.Ser153Arg, XP_011522797.1:p.Ser153Arg, NP_631916.2:p.Ser146Arg, NP_631916.2:p.Ser146Arg, XP_006721819.1:p.Ser153Arg, XP_006721819.1:p.Ser153Arg, XP_016879830.1:p.Ser146Arg, XP_016879830.1:p.Ser146Arg, XP_006721818.1:p.Ser153Arg, XP_006721818.1:p.Ser153Arg, XP_016879829.1:p.Ser146Arg, XP_016879829.1:p.Ser146Arg, XP_011522798.1:p.Ser153Arg, XP_011522798.1:p.Ser153Arg, XP_011522795.1:p.Ser153Arg, XP_011522795.1:p.Ser153Arg, NP_001339620.1:p.Ser146Arg, NP_001339620.1:p.Ser146Arg, XP_016879819.1:p.Ser146Arg, XP_016879819.1:p.Ser146Arg, NP_001339621.1:p.Ser153Arg, NP_001339621.1:p.Ser153Arg, NP_001339622.1:p.Ser146Arg, NP_001339622.1:p.Ser146Arg, XP_011522796.1:p.Ser153Arg, XP_011522796.1:p.Ser153Arg, NP_001153242.1:p.Ser153Arg, NP_001153242.1:p.Ser153Arg, XP_016879822.1:p.Ser103Arg, XP_016879822.1:p.Ser103Arg, XP_006721822.1:p.Ser153Arg, XP_006721822.1:p.Ser153Arg, XP_016879831.1:p.Ser146Arg, XP_016879831.1:p.Ser146Arg, XP_047291532.1:p.Ser146Arg, XP_047291532.1:p.Ser146Arg, XP_047291530.1:p.Ser153Arg, XP_047291530.1:p.Ser153Arg, XP_047291522.1:p.Ser153Arg, XP_047291522.1:p.Ser153Arg, XP_047291526.1:p.Ser146Arg, XP_047291526.1:p.Ser146Arg, XP_016879821.1:p.Ser146Arg, XP_016879821.1:p.Ser146Arg, XP_047291521.1:p.Ser153Arg, XP_047291521.1:p.Ser153Arg, XP_047291525.1:p.Ser146Arg, XP_047291525.1:p.Ser146Arg, XP_047291524.1:p.Ser146Arg, XP_047291524.1:p.Ser146Arg, XP_047291531.1:p.Ser153Arg, XP_047291531.1:p.Ser153Arg, XP_047291533.1:p.Ser146Arg, XP_047291533.1:p.Ser146Arg, XP_047291528.1:p.Ser146Arg, XP_047291528.1:p.Ser146Arg

                        12.

                        rs1474783432 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:72947844 (GRCh38)
                          17:70943983 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:72947843:G:A
                          Gene:
                          SLC39A11 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_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_000017.11:g.72947844G>A, NC_000017.10:g.70943983G>A, XM_006721758.5:c.338C>T, XM_006721758.4:c.338C>T, XM_006721758.3:c.338C>T, XM_006721758.2:c.338C>T, XM_006721758.1:c.338C>T, XM_011524498.4:c.338C>T, XM_011524498.3:c.338C>T, XM_011524498.2:c.338C>T, XM_011524498.1:c.338C>T, XM_011524495.4:c.338C>T, XM_011524495.3:c.338C>T, XM_011524495.2:c.338C>T, XM_011524495.1:c.338C>T, NM_139177.4:c.338C>T, NM_139177.3:c.338C>T, XM_006721756.4:c.338C>T, XM_006721756.3:c.338C>T, XM_006721756.2:c.338C>T, XM_006721756.1:c.338C>T, XM_017024341.3:c.338C>T, XM_017024341.2:c.338C>T, XM_017024341.1:c.338C>T, XM_006721755.3:c.338C>T, XM_006721755.2:c.338C>T, XM_006721755.1:c.338C>T, XM_017024340.3:c.338C>T, XM_017024340.2:c.338C>T, XM_017024340.1:c.338C>T, XM_017024334.3:c.338C>T, XM_017024334.2:c.338C>T, XM_017024334.1:c.338C>T, XM_006721757.3:c.338C>T, XM_006721757.2:c.338C>T, XM_006721757.1:c.338C>T, XM_011524496.3:c.338C>T, XM_011524496.2:c.338C>T, XM_011524496.1:c.338C>T, XM_011524493.2:c.338C>T, XM_011524493.1:c.338C>T, NM_001352691.2:c.338C>T, NM_001352691.1:c.338C>T, XM_017024330.2:c.338C>T, XM_017024330.1:c.338C>T, NM_001352692.2:c.338C>T, NM_001352692.1:c.338C>T, NM_001352693.2:c.338C>T, NM_001352693.1:c.338C>T, XM_011524494.2:c.338C>T, XM_011524494.1:c.338C>T, NM_001159770.2:c.338C>T, NM_001159770.1:c.338C>T, XM_017024333.2:c.188C>T, XM_017024333.1:c.188C>T, XM_017024335.2:c.338C>T, XM_017024335.1:c.338C>T, XM_006721759.2:c.338C>T, XM_006721759.1:c.338C>T, XM_017024342.2:c.338C>T, XM_017024342.1:c.338C>T, XM_047435576.1:c.338C>T, XM_047435574.1:c.338C>T, XM_047435566.1:c.338C>T, XM_047435570.1:c.338C>T, XM_017024332.1:c.338C>T, XM_047435571.1:c.338C>T, XM_047435565.1:c.338C>T, XM_047435569.1:c.338C>T, XM_047435568.1:c.338C>T, XM_047435578.1:c.338C>T, XM_047435575.1:c.338C>T, XM_047435577.1:c.338C>T, XM_047435572.1:c.338C>T, XP_006721821.1:p.Ala113Val, XP_011522800.1:p.Ala113Val, XP_011522797.1:p.Ala113Val, NP_631916.2:p.Ala113Val, XP_006721819.1:p.Ala113Val, XP_016879830.1:p.Ala113Val, XP_006721818.1:p.Ala113Val, XP_016879829.1:p.Ala113Val, XP_016879823.1:p.Ala113Val, XP_006721820.1:p.Ala113Val, XP_011522798.1:p.Ala113Val, XP_011522795.1:p.Ala113Val, NP_001339620.1:p.Ala113Val, XP_016879819.1:p.Ala113Val, NP_001339621.1:p.Ala113Val, NP_001339622.1:p.Ala113Val, XP_011522796.1:p.Ala113Val, NP_001153242.1:p.Ala113Val, XP_016879822.1:p.Ala63Val, XP_016879824.1:p.Ala113Val, XP_006721822.1:p.Ala113Val, XP_016879831.1:p.Ala113Val, XP_047291532.1:p.Ala113Val, XP_047291530.1:p.Ala113Val, XP_047291522.1:p.Ala113Val, XP_047291526.1:p.Ala113Val, XP_016879821.1:p.Ala113Val, XP_047291527.1:p.Ala113Val, XP_047291521.1:p.Ala113Val, XP_047291525.1:p.Ala113Val, XP_047291524.1:p.Ala113Val, XP_047291534.1:p.Ala113Val, XP_047291531.1:p.Ala113Val, XP_047291533.1:p.Ala113Val, XP_047291528.1:p.Ala113Val

                          13.

                          rs1472669898 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            17:72849647 (GRCh38)
                            17:70845786 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:72849646:T:A,NC_000017.11:72849646:T:C
                            Gene:
                            SLC39A11 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000017.11:g.72849647T>A, NC_000017.11:g.72849647T>C, NC_000017.10:g.70845786T>A, NC_000017.10:g.70845786T>C, NT_187616.1:g.16319T>A, NT_187616.1:g.16319T>C, NW_019805501.1:g.16317T>A, NW_019805501.1:g.16317T>C, XM_006721758.5:c.609A>T, XM_006721758.5:c.609A>G, XM_006721758.4:c.609A>T, XM_006721758.4:c.609A>G, XM_006721758.3:c.609A>T, XM_006721758.3:c.609A>G, XM_006721758.2:c.609A>T, XM_006721758.2:c.609A>G, XM_006721758.1:c.609A>T, XM_006721758.1:c.609A>G, XM_011524498.4:c.609A>T, XM_011524498.4:c.609A>G, XM_011524498.3:c.609A>T, XM_011524498.3:c.609A>G, XM_011524498.2:c.609A>T, XM_011524498.2:c.609A>G, XM_011524498.1:c.609A>T, XM_011524498.1:c.609A>G, XM_011524495.4:c.609A>T, XM_011524495.4:c.609A>G, XM_011524495.3:c.609A>T, XM_011524495.3:c.609A>G, XM_011524495.2:c.609A>T, XM_011524495.2:c.609A>G, XM_011524495.1:c.609A>T, XM_011524495.1:c.609A>G, NM_139177.4:c.588A>T, NM_139177.4:c.588A>G, NM_139177.3:c.588A>T, NM_139177.3:c.588A>G, XM_006721756.4:c.609A>T, XM_006721756.4:c.609A>G, XM_006721756.3:c.609A>T, XM_006721756.3:c.609A>G, XM_006721756.2:c.609A>T, XM_006721756.2:c.609A>G, XM_006721756.1:c.609A>T, XM_006721756.1:c.609A>G, XM_017024341.3:c.588A>T, XM_017024341.3:c.588A>G, XM_017024341.2:c.588A>T, XM_017024341.2:c.588A>G, XM_017024341.1:c.588A>T, XM_017024341.1:c.588A>G, XM_006721755.3:c.609A>T, XM_006721755.3:c.609A>G, XM_006721755.2:c.609A>T, XM_006721755.2:c.609A>G, XM_006721755.1:c.609A>T, XM_006721755.1:c.609A>G, XM_017024340.3:c.588A>T, XM_017024340.3:c.588A>G, XM_017024340.2:c.588A>T, XM_017024340.2:c.588A>G, XM_017024340.1:c.588A>T, XM_017024340.1:c.588A>G, XM_011524496.3:c.609A>T, XM_011524496.3:c.609A>G, XM_011524496.2:c.609A>T, XM_011524496.2:c.609A>G, XM_011524496.1:c.609A>T, XM_011524496.1:c.609A>G, XM_011524493.2:c.609A>T, XM_011524493.2:c.609A>G, XM_011524493.1:c.609A>T, XM_011524493.1:c.609A>G, NM_001352691.2:c.588A>T, NM_001352691.2:c.588A>G, NM_001352691.1:c.588A>T, NM_001352691.1:c.588A>G, XM_017024330.2:c.588A>T, XM_017024330.2:c.588A>G, XM_017024330.1:c.588A>T, XM_017024330.1:c.588A>G, NM_001352692.2:c.609A>T, NM_001352692.2:c.609A>G, NM_001352692.1:c.609A>T, NM_001352692.1:c.609A>G, NM_001352693.2:c.588A>T, NM_001352693.2:c.588A>G, NM_001352693.1:c.588A>T, NM_001352693.1:c.588A>G, XM_011524494.2:c.609A>T, XM_011524494.2:c.609A>G, XM_011524494.1:c.609A>T, XM_011524494.1:c.609A>G, NM_001159770.2:c.609A>T, NM_001159770.2:c.609A>G, NM_001159770.1:c.609A>T, NM_001159770.1:c.609A>G, XM_017024333.2:c.459A>T, XM_017024333.2:c.459A>G, XM_017024333.1:c.459A>T, XM_017024333.1:c.459A>G, XM_006721759.2:c.609A>T, XM_006721759.2:c.609A>G, XM_006721759.1:c.609A>T, XM_006721759.1:c.609A>G, XM_017024342.2:c.588A>T, XM_017024342.2:c.588A>G, XM_017024342.1:c.588A>T, XM_017024342.1:c.588A>G, XM_047435576.1:c.588A>T, XM_047435576.1:c.588A>G, XM_047435574.1:c.609A>T, XM_047435574.1:c.609A>G, XM_047435566.1:c.609A>T, XM_047435566.1:c.609A>G, XM_047435570.1:c.588A>T, XM_047435570.1:c.588A>G, XM_017024332.1:c.588A>T, XM_017024332.1:c.588A>G, XM_047435565.1:c.609A>T, XM_047435565.1:c.609A>G, XM_047435569.1:c.588A>T, XM_047435569.1:c.588A>G, XM_047435568.1:c.588A>T, XM_047435568.1:c.588A>G, XM_047435575.1:c.609A>T, XM_047435575.1:c.609A>G, XM_047435577.1:c.588A>T, XM_047435577.1:c.588A>G, XM_047435572.1:c.588A>T, XM_047435572.1:c.588A>G, XP_006721821.1:p.Ile203Met, XP_011522800.1:p.Ile203Met, XP_011522797.1:p.Ile203Met, NP_631916.2:p.Ile196Met, XP_006721819.1:p.Ile203Met, XP_016879830.1:p.Ile196Met, XP_006721818.1:p.Ile203Met, XP_016879829.1:p.Ile196Met, XP_011522798.1:p.Ile203Met, XP_011522795.1:p.Ile203Met, NP_001339620.1:p.Ile196Met, XP_016879819.1:p.Ile196Met, NP_001339621.1:p.Ile203Met, NP_001339622.1:p.Ile196Met, XP_011522796.1:p.Ile203Met, NP_001153242.1:p.Ile203Met, XP_016879822.1:p.Ile153Met, XP_006721822.1:p.Ile203Met, XP_016879831.1:p.Ile196Met, XP_047291532.1:p.Ile196Met, XP_047291530.1:p.Ile203Met, XP_047291522.1:p.Ile203Met, XP_047291526.1:p.Ile196Met, XP_016879821.1:p.Ile196Met, XP_047291521.1:p.Ile203Met, XP_047291525.1:p.Ile196Met, XP_047291524.1:p.Ile196Met, XP_047291531.1:p.Ile203Met, XP_047291533.1:p.Ile196Met, XP_047291528.1:p.Ile196Met

                            14.

                            rs1470392890 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              17:73031678 (GRCh38)
                              17:71027817 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:73031677:G:A,NC_000017.11:73031677:G:T
                              Gene:
                              SLC39A11 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              A=0.000008/2 (GnomAD_exomes)
                              T=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000017.11:g.73031678G>A, NC_000017.11:g.73031678G>T, NC_000017.10:g.71027817G>A, NC_000017.10:g.71027817G>T, XM_006721758.5:c.184C>T, XM_006721758.5:c.184C>A, XM_006721758.4:c.184C>T, XM_006721758.4:c.184C>A, XM_006721758.3:c.184C>T, XM_006721758.3:c.184C>A, XM_006721758.2:c.184C>T, XM_006721758.2:c.184C>A, XM_006721758.1:c.184C>T, XM_006721758.1:c.184C>A, XM_011524498.4:c.184C>T, XM_011524498.4:c.184C>A, XM_011524498.3:c.184C>T, XM_011524498.3:c.184C>A, XM_011524498.2:c.184C>T, XM_011524498.2:c.184C>A, XM_011524498.1:c.184C>T, XM_011524498.1:c.184C>A, XM_011524495.4:c.184C>T, XM_011524495.4:c.184C>A, XM_011524495.3:c.184C>T, XM_011524495.3:c.184C>A, XM_011524495.2:c.184C>T, XM_011524495.2:c.184C>A, XM_011524495.1:c.184C>T, XM_011524495.1:c.184C>A, NM_139177.4:c.184C>T, NM_139177.4:c.184C>A, NM_139177.3:c.184C>T, NM_139177.3:c.184C>A, XM_006721756.4:c.184C>T, XM_006721756.4:c.184C>A, XM_006721756.3:c.184C>T, XM_006721756.3:c.184C>A, XM_006721756.2:c.184C>T, XM_006721756.2:c.184C>A, XM_006721756.1:c.184C>T, XM_006721756.1:c.184C>A, XM_017024341.3:c.184C>T, XM_017024341.3:c.184C>A, XM_017024341.2:c.184C>T, XM_017024341.2:c.184C>A, XM_017024341.1:c.184C>T, XM_017024341.1:c.184C>A, XM_006721755.3:c.184C>T, XM_006721755.3:c.184C>A, XM_006721755.2:c.184C>T, XM_006721755.2:c.184C>A, XM_006721755.1:c.184C>T, XM_006721755.1:c.184C>A, XM_017024340.3:c.184C>T, XM_017024340.3:c.184C>A, XM_017024340.2:c.184C>T, XM_017024340.2:c.184C>A, XM_017024340.1:c.184C>T, XM_017024340.1:c.184C>A, XM_017024334.3:c.184C>T, XM_017024334.3:c.184C>A, XM_017024334.2:c.184C>T, XM_017024334.2:c.184C>A, XM_017024334.1:c.184C>T, XM_017024334.1:c.184C>A, XM_006721757.3:c.184C>T, XM_006721757.3:c.184C>A, XM_006721757.2:c.184C>T, XM_006721757.2:c.184C>A, XM_006721757.1:c.184C>T, XM_006721757.1:c.184C>A, XM_011524496.3:c.184C>T, XM_011524496.3:c.184C>A, XM_011524496.2:c.184C>T, XM_011524496.2:c.184C>A, XM_011524496.1:c.184C>T, XM_011524496.1:c.184C>A, XM_011524493.2:c.184C>T, XM_011524493.2:c.184C>A, XM_011524493.1:c.184C>T, XM_011524493.1:c.184C>A, NM_001352691.2:c.184C>T, NM_001352691.2:c.184C>A, NM_001352691.1:c.184C>T, NM_001352691.1:c.184C>A, XM_017024330.2:c.184C>T, XM_017024330.2:c.184C>A, XM_017024330.1:c.184C>T, XM_017024330.1:c.184C>A, NM_001352692.2:c.184C>T, NM_001352692.2:c.184C>A, NM_001352692.1:c.184C>T, NM_001352692.1:c.184C>A, NM_001352693.2:c.184C>T, NM_001352693.2:c.184C>A, NM_001352693.1:c.184C>T, NM_001352693.1:c.184C>A, XM_011524494.2:c.184C>T, XM_011524494.2:c.184C>A, XM_011524494.1:c.184C>T, XM_011524494.1:c.184C>A, NM_001159770.2:c.184C>T, NM_001159770.2:c.184C>A, NM_001159770.1:c.184C>T, NM_001159770.1:c.184C>A, XM_017024333.2:c.34C>T, XM_017024333.2:c.34C>A, XM_017024333.1:c.34C>T, XM_017024333.1:c.34C>A, XM_017024335.2:c.184C>T, XM_017024335.2:c.184C>A, XM_017024335.1:c.184C>T, XM_017024335.1:c.184C>A, XM_006721759.2:c.184C>T, XM_006721759.2:c.184C>A, XM_006721759.1:c.184C>T, XM_006721759.1:c.184C>A, XM_017024342.2:c.184C>T, XM_017024342.2:c.184C>A, XM_017024342.1:c.184C>T, XM_017024342.1:c.184C>A, XM_047435576.1:c.184C>T, XM_047435576.1:c.184C>A, XM_047435574.1:c.184C>T, XM_047435574.1:c.184C>A, XM_047435566.1:c.184C>T, XM_047435566.1:c.184C>A, XM_047435570.1:c.184C>T, XM_047435570.1:c.184C>A, XM_017024332.1:c.184C>T, XM_017024332.1:c.184C>A, XM_047435571.1:c.184C>T, XM_047435571.1:c.184C>A, XM_047435565.1:c.184C>T, XM_047435565.1:c.184C>A, XM_047435569.1:c.184C>T, XM_047435569.1:c.184C>A, XM_047435568.1:c.184C>T, XM_047435568.1:c.184C>A, XM_047435578.1:c.184C>T, XM_047435578.1:c.184C>A, XM_047435575.1:c.184C>T, XM_047435575.1:c.184C>A, XM_047435577.1:c.184C>T, XM_047435577.1:c.184C>A, XM_047435572.1:c.184C>T, XM_047435572.1:c.184C>A, XP_006721821.1:p.Pro62Ser, XP_006721821.1:p.Pro62Thr, XP_011522800.1:p.Pro62Ser, XP_011522800.1:p.Pro62Thr, XP_011522797.1:p.Pro62Ser, XP_011522797.1:p.Pro62Thr, NP_631916.2:p.Pro62Ser, NP_631916.2:p.Pro62Thr, XP_006721819.1:p.Pro62Ser, XP_006721819.1:p.Pro62Thr, XP_016879830.1:p.Pro62Ser, XP_016879830.1:p.Pro62Thr, XP_006721818.1:p.Pro62Ser, XP_006721818.1:p.Pro62Thr, XP_016879829.1:p.Pro62Ser, XP_016879829.1:p.Pro62Thr, XP_016879823.1:p.Pro62Ser, XP_016879823.1:p.Pro62Thr, XP_006721820.1:p.Pro62Ser, XP_006721820.1:p.Pro62Thr, XP_011522798.1:p.Pro62Ser, XP_011522798.1:p.Pro62Thr, XP_011522795.1:p.Pro62Ser, XP_011522795.1:p.Pro62Thr, NP_001339620.1:p.Pro62Ser, NP_001339620.1:p.Pro62Thr, XP_016879819.1:p.Pro62Ser, XP_016879819.1:p.Pro62Thr, NP_001339621.1:p.Pro62Ser, NP_001339621.1:p.Pro62Thr, NP_001339622.1:p.Pro62Ser, NP_001339622.1:p.Pro62Thr, XP_011522796.1:p.Pro62Ser, XP_011522796.1:p.Pro62Thr, NP_001153242.1:p.Pro62Ser, NP_001153242.1:p.Pro62Thr, XP_016879822.1:p.Pro12Ser, XP_016879822.1:p.Pro12Thr, XP_016879824.1:p.Pro62Ser, XP_016879824.1:p.Pro62Thr, XP_006721822.1:p.Pro62Ser, XP_006721822.1:p.Pro62Thr, XP_016879831.1:p.Pro62Ser, XP_016879831.1:p.Pro62Thr, XP_047291532.1:p.Pro62Ser, XP_047291532.1:p.Pro62Thr, XP_047291530.1:p.Pro62Ser, XP_047291530.1:p.Pro62Thr, XP_047291522.1:p.Pro62Ser, XP_047291522.1:p.Pro62Thr, XP_047291526.1:p.Pro62Ser, XP_047291526.1:p.Pro62Thr, XP_016879821.1:p.Pro62Ser, XP_016879821.1:p.Pro62Thr, XP_047291527.1:p.Pro62Ser, XP_047291527.1:p.Pro62Thr, XP_047291521.1:p.Pro62Ser, XP_047291521.1:p.Pro62Thr, XP_047291525.1:p.Pro62Ser, XP_047291525.1:p.Pro62Thr, XP_047291524.1:p.Pro62Ser, XP_047291524.1:p.Pro62Thr, XP_047291534.1:p.Pro62Ser, XP_047291534.1:p.Pro62Thr, XP_047291531.1:p.Pro62Ser, XP_047291531.1:p.Pro62Thr, XP_047291533.1:p.Pro62Ser, XP_047291533.1:p.Pro62Thr, XP_047291528.1:p.Pro62Ser, XP_047291528.1:p.Pro62Thr

                              15.

                              rs1467847263 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                17:72947853 (GRCh38)
                                17:70943992 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:72947852:G:A
                                Gene:
                                SLC39A11 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000087/2 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000007/1 (GnomAD)
                                A=0.000015/4 (TOPMED)
                                HGVS:
                                NC_000017.11:g.72947853G>A, NC_000017.10:g.70943992G>A, XM_006721758.5:c.329C>T, XM_006721758.4:c.329C>T, XM_006721758.3:c.329C>T, XM_006721758.2:c.329C>T, XM_006721758.1:c.329C>T, XM_011524498.4:c.329C>T, XM_011524498.3:c.329C>T, XM_011524498.2:c.329C>T, XM_011524498.1:c.329C>T, XM_011524495.4:c.329C>T, XM_011524495.3:c.329C>T, XM_011524495.2:c.329C>T, XM_011524495.1:c.329C>T, NM_139177.4:c.329C>T, NM_139177.3:c.329C>T, XM_006721756.4:c.329C>T, XM_006721756.3:c.329C>T, XM_006721756.2:c.329C>T, XM_006721756.1:c.329C>T, XM_017024341.3:c.329C>T, XM_017024341.2:c.329C>T, XM_017024341.1:c.329C>T, XM_006721755.3:c.329C>T, XM_006721755.2:c.329C>T, XM_006721755.1:c.329C>T, XM_017024340.3:c.329C>T, XM_017024340.2:c.329C>T, XM_017024340.1:c.329C>T, XM_017024334.3:c.329C>T, XM_017024334.2:c.329C>T, XM_017024334.1:c.329C>T, XM_006721757.3:c.329C>T, XM_006721757.2:c.329C>T, XM_006721757.1:c.329C>T, XM_011524496.3:c.329C>T, XM_011524496.2:c.329C>T, XM_011524496.1:c.329C>T, XM_011524493.2:c.329C>T, XM_011524493.1:c.329C>T, NM_001352691.2:c.329C>T, NM_001352691.1:c.329C>T, XM_017024330.2:c.329C>T, XM_017024330.1:c.329C>T, NM_001352692.2:c.329C>T, NM_001352692.1:c.329C>T, NM_001352693.2:c.329C>T, NM_001352693.1:c.329C>T, XM_011524494.2:c.329C>T, XM_011524494.1:c.329C>T, NM_001159770.2:c.329C>T, NM_001159770.1:c.329C>T, XM_017024333.2:c.179C>T, XM_017024333.1:c.179C>T, XM_017024335.2:c.329C>T, XM_017024335.1:c.329C>T, XM_006721759.2:c.329C>T, XM_006721759.1:c.329C>T, XM_017024342.2:c.329C>T, XM_017024342.1:c.329C>T, XM_047435576.1:c.329C>T, XM_047435574.1:c.329C>T, XM_047435566.1:c.329C>T, XM_047435570.1:c.329C>T, XM_017024332.1:c.329C>T, XM_047435571.1:c.329C>T, XM_047435565.1:c.329C>T, XM_047435569.1:c.329C>T, XM_047435568.1:c.329C>T, XM_047435578.1:c.329C>T, XM_047435575.1:c.329C>T, XM_047435577.1:c.329C>T, XM_047435572.1:c.329C>T, XP_006721821.1:p.Thr110Met, XP_011522800.1:p.Thr110Met, XP_011522797.1:p.Thr110Met, NP_631916.2:p.Thr110Met, XP_006721819.1:p.Thr110Met, XP_016879830.1:p.Thr110Met, XP_006721818.1:p.Thr110Met, XP_016879829.1:p.Thr110Met, XP_016879823.1:p.Thr110Met, XP_006721820.1:p.Thr110Met, XP_011522798.1:p.Thr110Met, XP_011522795.1:p.Thr110Met, NP_001339620.1:p.Thr110Met, XP_016879819.1:p.Thr110Met, NP_001339621.1:p.Thr110Met, NP_001339622.1:p.Thr110Met, XP_011522796.1:p.Thr110Met, NP_001153242.1:p.Thr110Met, XP_016879822.1:p.Thr60Met, XP_016879824.1:p.Thr110Met, XP_006721822.1:p.Thr110Met, XP_016879831.1:p.Thr110Met, XP_047291532.1:p.Thr110Met, XP_047291530.1:p.Thr110Met, XP_047291522.1:p.Thr110Met, XP_047291526.1:p.Thr110Met, XP_016879821.1:p.Thr110Met, XP_047291527.1:p.Thr110Met, XP_047291521.1:p.Thr110Met, XP_047291525.1:p.Thr110Met, XP_047291524.1:p.Thr110Met, XP_047291534.1:p.Thr110Met, XP_047291531.1:p.Thr110Met, XP_047291533.1:p.Thr110Met, XP_047291528.1:p.Thr110Met

                                16.

                                rs1462470219 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:73088709 (GRCh38)
                                  17:71084848 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:73088708:C:T
                                  Gene:
                                  SLC39A11 (Varview)
                                  Functional Consequence:
                                  stop_gained,genic_upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000017.11:g.73088709C>T, NC_000017.10:g.71084848C>T, XM_006721758.5:c.56G>A, XM_006721758.4:c.56G>A, XM_006721758.3:c.56G>A, XM_006721758.2:c.56G>A, XM_006721758.1:c.56G>A, XM_011524498.4:c.56G>A, XM_011524498.3:c.56G>A, XM_011524498.2:c.56G>A, XM_011524498.1:c.56G>A, XM_011524495.4:c.56G>A, XM_011524495.3:c.56G>A, XM_011524495.2:c.56G>A, XM_011524495.1:c.56G>A, NM_139177.4:c.56G>A, NM_139177.3:c.56G>A, XM_006721756.4:c.56G>A, XM_006721756.3:c.56G>A, XM_006721756.2:c.56G>A, XM_006721756.1:c.56G>A, XM_017024341.3:c.56G>A, XM_017024341.2:c.56G>A, XM_017024341.1:c.56G>A, XM_006721755.3:c.56G>A, XM_006721755.2:c.56G>A, XM_006721755.1:c.56G>A, XM_017024340.3:c.56G>A, XM_017024340.2:c.56G>A, XM_017024340.1:c.56G>A, XM_017024334.3:c.56G>A, XM_017024334.2:c.56G>A, XM_017024334.1:c.56G>A, XM_006721757.3:c.56G>A, XM_006721757.2:c.56G>A, XM_006721757.1:c.56G>A, XM_011524496.3:c.56G>A, XM_011524496.2:c.56G>A, XM_011524496.1:c.56G>A, XM_011524493.2:c.56G>A, XM_011524493.1:c.56G>A, NM_001352691.2:c.56G>A, NM_001352691.1:c.56G>A, XM_017024330.2:c.56G>A, XM_017024330.1:c.56G>A, NM_001352692.2:c.56G>A, NM_001352692.1:c.56G>A, NM_001352693.2:c.56G>A, NM_001352693.1:c.56G>A, XM_011524494.2:c.56G>A, XM_011524494.1:c.56G>A, NM_001159770.2:c.56G>A, NM_001159770.1:c.56G>A, XM_017024335.2:c.56G>A, XM_017024335.1:c.56G>A, XM_006721759.2:c.56G>A, XM_006721759.1:c.56G>A, XM_017024342.2:c.56G>A, XM_017024342.1:c.56G>A, XM_047435576.1:c.56G>A, XM_047435574.1:c.56G>A, XM_047435566.1:c.56G>A, XM_047435570.1:c.56G>A, XM_017024332.1:c.56G>A, XM_047435571.1:c.56G>A, XM_047435565.1:c.56G>A, XM_047435569.1:c.56G>A, XM_047435568.1:c.56G>A, XM_047435578.1:c.56G>A, XM_047435575.1:c.56G>A, XM_047435577.1:c.56G>A, XM_047435572.1:c.56G>A, XP_006721821.1:p.Trp19Ter, XP_011522800.1:p.Trp19Ter, XP_011522797.1:p.Trp19Ter, NP_631916.2:p.Trp19Ter, XP_006721819.1:p.Trp19Ter, XP_016879830.1:p.Trp19Ter, XP_006721818.1:p.Trp19Ter, XP_016879829.1:p.Trp19Ter, XP_016879823.1:p.Trp19Ter, XP_006721820.1:p.Trp19Ter, XP_011522798.1:p.Trp19Ter, XP_011522795.1:p.Trp19Ter, NP_001339620.1:p.Trp19Ter, XP_016879819.1:p.Trp19Ter, NP_001339621.1:p.Trp19Ter, NP_001339622.1:p.Trp19Ter, XP_011522796.1:p.Trp19Ter, NP_001153242.1:p.Trp19Ter, XP_016879824.1:p.Trp19Ter, XP_006721822.1:p.Trp19Ter, XP_016879831.1:p.Trp19Ter, XP_047291532.1:p.Trp19Ter, XP_047291530.1:p.Trp19Ter, XP_047291522.1:p.Trp19Ter, XP_047291526.1:p.Trp19Ter, XP_016879821.1:p.Trp19Ter, XP_047291527.1:p.Trp19Ter, XP_047291521.1:p.Trp19Ter, XP_047291525.1:p.Trp19Ter, XP_047291524.1:p.Trp19Ter, XP_047291534.1:p.Trp19Ter, XP_047291531.1:p.Trp19Ter, XP_047291533.1:p.Trp19Ter, XP_047291528.1:p.Trp19Ter

                                  17.

                                  rs1462374371 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    17:72947788 (GRCh38)
                                    17:70943927 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:72947787:G:C
                                    Gene:
                                    SLC39A11 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.72947788G>C, NC_000017.10:g.70943927G>C, XM_006721758.5:c.394C>G, XM_006721758.4:c.394C>G, XM_006721758.3:c.394C>G, XM_006721758.2:c.394C>G, XM_006721758.1:c.394C>G, XM_011524498.4:c.394C>G, XM_011524498.3:c.394C>G, XM_011524498.2:c.394C>G, XM_011524498.1:c.394C>G, XM_011524495.4:c.394C>G, XM_011524495.3:c.394C>G, XM_011524495.2:c.394C>G, XM_011524495.1:c.394C>G, NM_139177.4:c.394C>G, NM_139177.3:c.394C>G, XM_006721756.4:c.394C>G, XM_006721756.3:c.394C>G, XM_006721756.2:c.394C>G, XM_006721756.1:c.394C>G, XM_017024341.3:c.394C>G, XM_017024341.2:c.394C>G, XM_017024341.1:c.394C>G, XM_006721755.3:c.394C>G, XM_006721755.2:c.394C>G, XM_006721755.1:c.394C>G, XM_017024340.3:c.394C>G, XM_017024340.2:c.394C>G, XM_017024340.1:c.394C>G, XM_017024334.3:c.394C>G, XM_017024334.2:c.394C>G, XM_017024334.1:c.394C>G, XM_006721757.3:c.394C>G, XM_006721757.2:c.394C>G, XM_006721757.1:c.394C>G, XM_011524496.3:c.394C>G, XM_011524496.2:c.394C>G, XM_011524496.1:c.394C>G, XM_011524493.2:c.394C>G, XM_011524493.1:c.394C>G, NM_001352691.2:c.394C>G, NM_001352691.1:c.394C>G, XM_017024330.2:c.394C>G, XM_017024330.1:c.394C>G, NM_001352692.2:c.394C>G, NM_001352692.1:c.394C>G, NM_001352693.2:c.394C>G, NM_001352693.1:c.394C>G, XM_011524494.2:c.394C>G, XM_011524494.1:c.394C>G, NM_001159770.2:c.394C>G, NM_001159770.1:c.394C>G, XM_017024333.2:c.244C>G, XM_017024333.1:c.244C>G, XM_017024335.2:c.394C>G, XM_017024335.1:c.394C>G, XM_006721759.2:c.394C>G, XM_006721759.1:c.394C>G, XM_017024342.2:c.394C>G, XM_017024342.1:c.394C>G, XM_047435576.1:c.394C>G, XM_047435574.1:c.394C>G, XM_047435566.1:c.394C>G, XM_047435570.1:c.394C>G, XM_017024332.1:c.394C>G, XM_047435571.1:c.394C>G, XM_047435565.1:c.394C>G, XM_047435569.1:c.394C>G, XM_047435568.1:c.394C>G, XM_047435578.1:c.394C>G, XM_047435575.1:c.394C>G, XM_047435577.1:c.394C>G, XM_047435572.1:c.394C>G, XP_006721821.1:p.Leu132Val, XP_011522800.1:p.Leu132Val, XP_011522797.1:p.Leu132Val, NP_631916.2:p.Leu132Val, XP_006721819.1:p.Leu132Val, XP_016879830.1:p.Leu132Val, XP_006721818.1:p.Leu132Val, XP_016879829.1:p.Leu132Val, XP_016879823.1:p.Leu132Val, XP_006721820.1:p.Leu132Val, XP_011522798.1:p.Leu132Val, XP_011522795.1:p.Leu132Val, NP_001339620.1:p.Leu132Val, XP_016879819.1:p.Leu132Val, NP_001339621.1:p.Leu132Val, NP_001339622.1:p.Leu132Val, XP_011522796.1:p.Leu132Val, NP_001153242.1:p.Leu132Val, XP_016879822.1:p.Leu82Val, XP_016879824.1:p.Leu132Val, XP_006721822.1:p.Leu132Val, XP_016879831.1:p.Leu132Val, XP_047291532.1:p.Leu132Val, XP_047291530.1:p.Leu132Val, XP_047291522.1:p.Leu132Val, XP_047291526.1:p.Leu132Val, XP_016879821.1:p.Leu132Val, XP_047291527.1:p.Leu132Val, XP_047291521.1:p.Leu132Val, XP_047291525.1:p.Leu132Val, XP_047291524.1:p.Leu132Val, XP_047291534.1:p.Leu132Val, XP_047291531.1:p.Leu132Val, XP_047291533.1:p.Leu132Val, XP_047291528.1:p.Leu132Val

                                    18.

                                    rs1460847224 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:72947779 (GRCh38)
                                      17:70943918 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:72947778:G:A
                                      Gene:
                                      SLC39A11 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      NC_000017.11:g.72947779G>A, NC_000017.10:g.70943918G>A, XM_006721758.5:c.403C>T, XM_006721758.4:c.403C>T, XM_006721758.3:c.403C>T, XM_006721758.2:c.403C>T, XM_006721758.1:c.403C>T, XM_011524498.4:c.403C>T, XM_011524498.3:c.403C>T, XM_011524498.2:c.403C>T, XM_011524498.1:c.403C>T, XM_011524495.4:c.403C>T, XM_011524495.3:c.403C>T, XM_011524495.2:c.403C>T, XM_011524495.1:c.403C>T, NM_139177.4:c.403C>T, NM_139177.3:c.403C>T, XM_006721756.4:c.403C>T, XM_006721756.3:c.403C>T, XM_006721756.2:c.403C>T, XM_006721756.1:c.403C>T, XM_017024341.3:c.403C>T, XM_017024341.2:c.403C>T, XM_017024341.1:c.403C>T, XM_006721755.3:c.403C>T, XM_006721755.2:c.403C>T, XM_006721755.1:c.403C>T, XM_017024340.3:c.403C>T, XM_017024340.2:c.403C>T, XM_017024340.1:c.403C>T, XM_017024334.3:c.403C>T, XM_017024334.2:c.403C>T, XM_017024334.1:c.403C>T, XM_006721757.3:c.403C>T, XM_006721757.2:c.403C>T, XM_006721757.1:c.403C>T, XM_011524496.3:c.403C>T, XM_011524496.2:c.403C>T, XM_011524496.1:c.403C>T, XM_011524493.2:c.403C>T, XM_011524493.1:c.403C>T, NM_001352691.2:c.403C>T, NM_001352691.1:c.403C>T, XM_017024330.2:c.403C>T, XM_017024330.1:c.403C>T, NM_001352692.2:c.403C>T, NM_001352692.1:c.403C>T, NM_001352693.2:c.403C>T, NM_001352693.1:c.403C>T, XM_011524494.2:c.403C>T, XM_011524494.1:c.403C>T, NM_001159770.2:c.403C>T, NM_001159770.1:c.403C>T, XM_017024333.2:c.253C>T, XM_017024333.1:c.253C>T, XM_017024335.2:c.403C>T, XM_017024335.1:c.403C>T, XM_006721759.2:c.403C>T, XM_006721759.1:c.403C>T, XM_017024342.2:c.403C>T, XM_017024342.1:c.403C>T, XM_047435576.1:c.403C>T, XM_047435574.1:c.403C>T, XM_047435566.1:c.403C>T, XM_047435570.1:c.403C>T, XM_017024332.1:c.403C>T, XM_047435571.1:c.403C>T, XM_047435565.1:c.403C>T, XM_047435569.1:c.403C>T, XM_047435568.1:c.403C>T, XM_047435578.1:c.403C>T, XM_047435575.1:c.403C>T, XM_047435577.1:c.403C>T, XM_047435572.1:c.403C>T, XP_006721821.1:p.Pro135Ser, XP_011522800.1:p.Pro135Ser, XP_011522797.1:p.Pro135Ser, NP_631916.2:p.Pro135Ser, XP_006721819.1:p.Pro135Ser, XP_016879830.1:p.Pro135Ser, XP_006721818.1:p.Pro135Ser, XP_016879829.1:p.Pro135Ser, XP_016879823.1:p.Pro135Ser, XP_006721820.1:p.Pro135Ser, XP_011522798.1:p.Pro135Ser, XP_011522795.1:p.Pro135Ser, NP_001339620.1:p.Pro135Ser, XP_016879819.1:p.Pro135Ser, NP_001339621.1:p.Pro135Ser, NP_001339622.1:p.Pro135Ser, XP_011522796.1:p.Pro135Ser, NP_001153242.1:p.Pro135Ser, XP_016879822.1:p.Pro85Ser, XP_016879824.1:p.Pro135Ser, XP_006721822.1:p.Pro135Ser, XP_016879831.1:p.Pro135Ser, XP_047291532.1:p.Pro135Ser, XP_047291530.1:p.Pro135Ser, XP_047291522.1:p.Pro135Ser, XP_047291526.1:p.Pro135Ser, XP_016879821.1:p.Pro135Ser, XP_047291527.1:p.Pro135Ser, XP_047291521.1:p.Pro135Ser, XP_047291525.1:p.Pro135Ser, XP_047291524.1:p.Pro135Ser, XP_047291534.1:p.Pro135Ser, XP_047291531.1:p.Pro135Ser, XP_047291533.1:p.Pro135Ser, XP_047291528.1:p.Pro135Ser

                                      19.

                                      rs1454910916 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        17:72947794 (GRCh38)
                                        17:70943933 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:72947793:G:T
                                        Gene:
                                        SLC39A11 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000051/1 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.72947794G>T, NC_000017.10:g.70943933G>T, XM_006721758.5:c.388C>A, XM_006721758.4:c.388C>A, XM_006721758.3:c.388C>A, XM_006721758.2:c.388C>A, XM_006721758.1:c.388C>A, XM_011524498.4:c.388C>A, XM_011524498.3:c.388C>A, XM_011524498.2:c.388C>A, XM_011524498.1:c.388C>A, XM_011524495.4:c.388C>A, XM_011524495.3:c.388C>A, XM_011524495.2:c.388C>A, XM_011524495.1:c.388C>A, NM_139177.4:c.388C>A, NM_139177.3:c.388C>A, XM_006721756.4:c.388C>A, XM_006721756.3:c.388C>A, XM_006721756.2:c.388C>A, XM_006721756.1:c.388C>A, XM_017024341.3:c.388C>A, XM_017024341.2:c.388C>A, XM_017024341.1:c.388C>A, XM_006721755.3:c.388C>A, XM_006721755.2:c.388C>A, XM_006721755.1:c.388C>A, XM_017024340.3:c.388C>A, XM_017024340.2:c.388C>A, XM_017024340.1:c.388C>A, XM_017024334.3:c.388C>A, XM_017024334.2:c.388C>A, XM_017024334.1:c.388C>A, XM_006721757.3:c.388C>A, XM_006721757.2:c.388C>A, XM_006721757.1:c.388C>A, XM_011524496.3:c.388C>A, XM_011524496.2:c.388C>A, XM_011524496.1:c.388C>A, XM_011524493.2:c.388C>A, XM_011524493.1:c.388C>A, NM_001352691.2:c.388C>A, NM_001352691.1:c.388C>A, XM_017024330.2:c.388C>A, XM_017024330.1:c.388C>A, NM_001352692.2:c.388C>A, NM_001352692.1:c.388C>A, NM_001352693.2:c.388C>A, NM_001352693.1:c.388C>A, XM_011524494.2:c.388C>A, XM_011524494.1:c.388C>A, NM_001159770.2:c.388C>A, NM_001159770.1:c.388C>A, XM_017024333.2:c.238C>A, XM_017024333.1:c.238C>A, XM_017024335.2:c.388C>A, XM_017024335.1:c.388C>A, XM_006721759.2:c.388C>A, XM_006721759.1:c.388C>A, XM_017024342.2:c.388C>A, XM_017024342.1:c.388C>A, XM_047435576.1:c.388C>A, XM_047435574.1:c.388C>A, XM_047435566.1:c.388C>A, XM_047435570.1:c.388C>A, XM_017024332.1:c.388C>A, XM_047435571.1:c.388C>A, XM_047435565.1:c.388C>A, XM_047435569.1:c.388C>A, XM_047435568.1:c.388C>A, XM_047435578.1:c.388C>A, XM_047435575.1:c.388C>A, XM_047435577.1:c.388C>A, XM_047435572.1:c.388C>A, XP_006721821.1:p.Pro130Thr, XP_011522800.1:p.Pro130Thr, XP_011522797.1:p.Pro130Thr, NP_631916.2:p.Pro130Thr, XP_006721819.1:p.Pro130Thr, XP_016879830.1:p.Pro130Thr, XP_006721818.1:p.Pro130Thr, XP_016879829.1:p.Pro130Thr, XP_016879823.1:p.Pro130Thr, XP_006721820.1:p.Pro130Thr, XP_011522798.1:p.Pro130Thr, XP_011522795.1:p.Pro130Thr, NP_001339620.1:p.Pro130Thr, XP_016879819.1:p.Pro130Thr, NP_001339621.1:p.Pro130Thr, NP_001339622.1:p.Pro130Thr, XP_011522796.1:p.Pro130Thr, NP_001153242.1:p.Pro130Thr, XP_016879822.1:p.Pro80Thr, XP_016879824.1:p.Pro130Thr, XP_006721822.1:p.Pro130Thr, XP_016879831.1:p.Pro130Thr, XP_047291532.1:p.Pro130Thr, XP_047291530.1:p.Pro130Thr, XP_047291522.1:p.Pro130Thr, XP_047291526.1:p.Pro130Thr, XP_016879821.1:p.Pro130Thr, XP_047291527.1:p.Pro130Thr, XP_047291521.1:p.Pro130Thr, XP_047291525.1:p.Pro130Thr, XP_047291524.1:p.Pro130Thr, XP_047291534.1:p.Pro130Thr, XP_047291531.1:p.Pro130Thr, XP_047291533.1:p.Pro130Thr, XP_047291528.1:p.Pro130Thr

                                        20.

                                        rs1453718959 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          17:73031652 (GRCh38)
                                          17:71027791 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:73031651:A:G
                                          Gene:
                                          SLC39A11 (Varview)
                                          Functional Consequence:
                                          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_000017.11:g.73031652A>G, NC_000017.10:g.71027791A>G, XM_006721758.5:c.210T>C, XM_006721758.4:c.210T>C, XM_006721758.3:c.210T>C, XM_006721758.2:c.210T>C, XM_006721758.1:c.210T>C, XM_011524498.4:c.210T>C, XM_011524498.3:c.210T>C, XM_011524498.2:c.210T>C, XM_011524498.1:c.210T>C, XM_011524495.4:c.210T>C, XM_011524495.3:c.210T>C, XM_011524495.2:c.210T>C, XM_011524495.1:c.210T>C, NM_139177.4:c.210T>C, NM_139177.3:c.210T>C, XM_006721756.4:c.210T>C, XM_006721756.3:c.210T>C, XM_006721756.2:c.210T>C, XM_006721756.1:c.210T>C, XM_017024341.3:c.210T>C, XM_017024341.2:c.210T>C, XM_017024341.1:c.210T>C, XM_006721755.3:c.210T>C, XM_006721755.2:c.210T>C, XM_006721755.1:c.210T>C, XM_017024340.3:c.210T>C, XM_017024340.2:c.210T>C, XM_017024340.1:c.210T>C, XM_017024334.3:c.210T>C, XM_017024334.2:c.210T>C, XM_017024334.1:c.210T>C, XM_006721757.3:c.210T>C, XM_006721757.2:c.210T>C, XM_006721757.1:c.210T>C, XM_011524496.3:c.210T>C, XM_011524496.2:c.210T>C, XM_011524496.1:c.210T>C, XM_011524493.2:c.210T>C, XM_011524493.1:c.210T>C, NM_001352691.2:c.210T>C, NM_001352691.1:c.210T>C, XM_017024330.2:c.210T>C, XM_017024330.1:c.210T>C, NM_001352692.2:c.210T>C, NM_001352692.1:c.210T>C, NM_001352693.2:c.210T>C, NM_001352693.1:c.210T>C, XM_011524494.2:c.210T>C, XM_011524494.1:c.210T>C, NM_001159770.2:c.210T>C, NM_001159770.1:c.210T>C, XM_017024333.2:c.60T>C, XM_017024333.1:c.60T>C, XM_017024335.2:c.210T>C, XM_017024335.1:c.210T>C, XM_006721759.2:c.210T>C, XM_006721759.1:c.210T>C, XM_017024342.2:c.210T>C, XM_017024342.1:c.210T>C, XM_047435576.1:c.210T>C, XM_047435574.1:c.210T>C, XM_047435566.1:c.210T>C, XM_047435570.1:c.210T>C, XM_017024332.1:c.210T>C, XM_047435571.1:c.210T>C, XM_047435565.1:c.210T>C, XM_047435569.1:c.210T>C, XM_047435568.1:c.210T>C, XM_047435578.1:c.210T>C, XM_047435575.1:c.210T>C, XM_047435577.1:c.210T>C, XM_047435572.1:c.210T>C

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