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Items: 1 to 20 of 147

1.

rs1486999444 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C,T [Show Flanks]
    Chromosome:
    19:53086272 (GRCh38)
    19:53589525 (GRCh37)
    Canonical SPDI:
    NC_000019.10:53086271:G:C,NC_000019.10:53086271:G:T
    Gene:
    ZNF160 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000013/3 (GnomAD_exomes)
    T=0.000684/2 (KOREAN)
    HGVS:
    NC_000019.10:g.53086272G>C, NC_000019.10:g.53086272G>T, NC_000019.9:g.53589525G>C, NC_000019.9:g.53589525G>T, NM_033288.4:c.5C>G, NM_033288.4:c.5C>A, NM_033288.3:c.5C>G, NM_033288.3:c.5C>A, NM_198893.3:c.5C>G, NM_198893.3:c.5C>A, NM_198893.2:c.5C>G, NM_198893.2:c.5C>A, XM_017027448.3:c.5C>G, XM_017027448.3:c.5C>A, XM_017027448.2:c.5C>G, XM_017027448.2:c.5C>A, XM_017027448.1:c.5C>G, XM_017027448.1:c.5C>A, XM_017027447.3:c.62C>G, XM_017027447.3:c.62C>A, XM_017027447.2:c.62C>G, XM_017027447.2:c.62C>A, XM_017027447.1:c.62C>G, XM_017027447.1:c.62C>A, NM_001322130.2:c.5C>G, NM_001322130.2:c.5C>A, NM_001322130.1:c.5C>G, NM_001322130.1:c.5C>A, NM_001322139.2:c.-257C>G, NM_001322139.2:c.-257C>A, NM_001322139.1:c.-257C>G, NM_001322139.1:c.-257C>A, NM_001322131.2:c.5C>G, NM_001322131.2:c.5C>A, NM_001322131.1:c.5C>G, NM_001322131.1:c.5C>A, NM_001322129.2:c.5C>G, NM_001322129.2:c.5C>A, NM_001322129.1:c.5C>G, NM_001322129.1:c.5C>A, NM_001322137.2:c.-160C>G, NM_001322137.2:c.-160C>A, NM_001322137.1:c.-160C>G, NM_001322137.1:c.-160C>A, NM_001322134.2:c.5C>G, NM_001322134.2:c.5C>A, NM_001322134.1:c.5C>G, NM_001322134.1:c.5C>A, NM_001322133.2:c.5C>G, NM_001322133.2:c.5C>A, NM_001322133.1:c.5C>G, NM_001322133.1:c.5C>A, NM_001322128.2:c.5C>G, NM_001322128.2:c.5C>A, NM_001322128.1:c.5C>G, NM_001322128.1:c.5C>A, NM_001102603.2:c.5C>G, NM_001102603.2:c.5C>A, NM_001102603.1:c.5C>G, NM_001102603.1:c.5C>A, NM_001322132.2:c.5C>G, NM_001322132.2:c.5C>A, NM_001322132.1:c.5C>G, NM_001322132.1:c.5C>A, NM_001322138.2:c.-160C>G, NM_001322138.2:c.-160C>A, NM_001322138.1:c.-160C>G, NM_001322138.1:c.-160C>A, NM_001322135.2:c.5C>G, NM_001322135.2:c.5C>A, NM_001322135.1:c.5C>G, NM_001322135.1:c.5C>A, NM_001322126.2:c.5C>G, NM_001322126.2:c.5C>A, NM_001322126.1:c.5C>G, NM_001322126.1:c.5C>A, NM_001322125.2:c.5C>G, NM_001322125.2:c.5C>A, NM_001322125.1:c.5C>G, NM_001322125.1:c.5C>A, XM_047439624.1:c.62C>G, XM_047439624.1:c.62C>A, XM_047439617.1:c.62C>G, XM_047439617.1:c.62C>A, XM_047439619.1:c.5C>G, XM_047439619.1:c.5C>A, XM_047439623.1:c.5C>G, XM_047439623.1:c.5C>A, XM_047439627.1:c.-1203C>G, XM_047439627.1:c.-1203C>A, XM_047439641.1:c.-1051C>G, XM_047439641.1:c.-1051C>A, XM_047439626.1:c.-1203C>G, XM_047439626.1:c.-1203C>A, XM_047439625.1:c.-1203C>G, XM_047439625.1:c.-1203C>A, XM_047439630.1:c.-1070C>G, XM_047439630.1:c.-1070C>A, XM_047439629.1:c.-1051C>G, XM_047439629.1:c.-1051C>A, XM_047439631.1:c.-1051C>G, XM_047439631.1:c.-1051C>A, XM_047439632.1:c.-1203C>G, XM_047439632.1:c.-1203C>A, XM_047439637.1:c.-1070C>G, XM_047439637.1:c.-1070C>A, XM_047439636.1:c.-1051C>G, XM_047439636.1:c.-1051C>A, XM_047439628.1:c.-835C>G, XM_047439628.1:c.-835C>A, XM_047439635.1:c.-1051C>G, XM_047439635.1:c.-1051C>A, XM_047439638.1:c.-1051C>G, XM_047439638.1:c.-1051C>A, XM_047439633.1:c.-613C>G, XM_047439633.1:c.-613C>A, XM_047439620.1:c.5C>G, XM_047439620.1:c.5C>A, XM_047439634.1:c.-409C>G, XM_047439634.1:c.-409C>A, XM_047439618.1:c.5C>G, XM_047439618.1:c.5C>A, XM_047439622.1:c.5C>G, XM_047439622.1:c.5C>A, XM_047439621.1:c.5C>G, XM_047439621.1:c.5C>A, XM_047439639.1:c.-160C>G, XM_047439639.1:c.-160C>A, XM_047439640.1:c.-160C>G, XM_047439640.1:c.-160C>A, XM_047439642.1:c.-160C>G, XM_047439642.1:c.-160C>A, XM_047439616.1:c.5C>G, XM_047439616.1:c.5C>A, NM_001322136.1:c.5C>G, NM_001322136.1:c.5C>A, XM_047439643.1:c.5C>G, XM_047439643.1:c.5C>A, XM_047439646.1:c.5C>G, XM_047439646.1:c.5C>A, XM_047439644.1:c.5C>G, XM_047439644.1:c.5C>A, XM_047439645.1:c.5C>G, XM_047439645.1:c.5C>A, NP_150630.2:p.Ala2Gly, NP_150630.2:p.Ala2Asp, NP_942596.1:p.Ala2Gly, NP_942596.1:p.Ala2Asp, XP_016882937.1:p.Ala2Gly, XP_016882937.1:p.Ala2Asp, XP_016882936.1:p.Ala21Gly, XP_016882936.1:p.Ala21Asp, NP_001309059.1:p.Ala2Gly, NP_001309059.1:p.Ala2Asp, NP_001309060.1:p.Ala2Gly, NP_001309060.1:p.Ala2Asp, NP_001309058.1:p.Ala2Gly, NP_001309058.1:p.Ala2Asp, NP_001309063.1:p.Ala2Gly, NP_001309063.1:p.Ala2Asp, NP_001309062.1:p.Ala2Gly, NP_001309062.1:p.Ala2Asp, NP_001309057.1:p.Ala2Gly, NP_001309057.1:p.Ala2Asp, NP_001096073.1:p.Ala2Gly, NP_001096073.1:p.Ala2Asp, NP_001309061.1:p.Ala2Gly, NP_001309061.1:p.Ala2Asp, NP_001309064.1:p.Ala2Gly, NP_001309064.1:p.Ala2Asp, NP_001309055.1:p.Ala2Gly, NP_001309055.1:p.Ala2Asp, NP_001309054.1:p.Ala2Gly, NP_001309054.1:p.Ala2Asp, XP_047295580.1:p.Ala21Gly, XP_047295580.1:p.Ala21Asp, XP_047295573.1:p.Ala21Gly, XP_047295573.1:p.Ala21Asp, XP_047295575.1:p.Ala2Gly, XP_047295575.1:p.Ala2Asp, XP_047295579.1:p.Ala2Gly, XP_047295579.1:p.Ala2Asp, XP_047295576.1:p.Ala2Gly, XP_047295576.1:p.Ala2Asp, XP_047295574.1:p.Ala2Gly, XP_047295574.1:p.Ala2Asp, XP_047295578.1:p.Ala2Gly, XP_047295578.1:p.Ala2Asp, XP_047295577.1:p.Ala2Gly, XP_047295577.1:p.Ala2Asp, XP_047295572.1:p.Ala2Gly, XP_047295572.1:p.Ala2Asp, NP_001309065.1:p.Ala2Gly, NP_001309065.1:p.Ala2Asp, XP_047295599.1:p.Ala2Gly, XP_047295599.1:p.Ala2Asp, XP_047295602.1:p.Ala2Gly, XP_047295602.1:p.Ala2Asp, XP_047295600.1:p.Ala2Gly, XP_047295600.1:p.Ala2Asp, XP_047295601.1:p.Ala2Gly, XP_047295601.1:p.Ala2Asp

    2.

    rs1486070523 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      19:53075089 (GRCh38)
      19:53578342 (GRCh37)
      Canonical SPDI:
      NC_000019.10:53075088:A:C
      Gene:
      ZNF160 (Varview)
      Functional Consequence:
      initiator_codon_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000019.10:g.53075089A>C, NC_000019.9:g.53578342A>C, NM_033288.4:c.110T>G, NM_033288.3:c.110T>G, NM_198893.3:c.110T>G, NM_198893.2:c.110T>G, XM_017027448.3:c.110T>G, XM_017027448.2:c.110T>G, XM_017027448.1:c.110T>G, XM_017027447.3:c.167T>G, XM_017027447.2:c.167T>G, XM_017027447.1:c.167T>G, NM_001322130.2:c.110T>G, NM_001322130.1:c.110T>G, NM_001322139.2:c.2T>G, NM_001322139.1:c.2T>G, NM_001322131.2:c.110T>G, NM_001322131.1:c.110T>G, NM_001322129.2:c.110T>G, NM_001322129.1:c.110T>G, NM_001322137.2:c.2T>G, NM_001322137.1:c.2T>G, NM_001322134.2:c.110T>G, NM_001322134.1:c.110T>G, NM_001322133.2:c.110T>G, NM_001322133.1:c.110T>G, NM_001322128.2:c.110T>G, NM_001322128.1:c.110T>G, NM_001102603.2:c.110T>G, NM_001102603.1:c.110T>G, NM_001322132.2:c.110T>G, NM_001322132.1:c.110T>G, NM_001322138.2:c.2T>G, NM_001322138.1:c.2T>G, NM_001322135.2:c.110T>G, NM_001322135.1:c.110T>G, NM_001322126.2:c.110T>G, NM_001322126.1:c.110T>G, NM_001322125.2:c.110T>G, NM_001322125.1:c.110T>G, XM_047439624.1:c.167T>G, XM_047439617.1:c.167T>G, XM_047439619.1:c.110T>G, XM_047439623.1:c.110T>G, XM_047439627.1:c.2T>G, XM_047439641.1:c.2T>G, XM_047439626.1:c.2T>G, XM_047439625.1:c.2T>G, XM_047439630.1:c.2T>G, XM_047439629.1:c.2T>G, XM_047439631.1:c.2T>G, XM_047439632.1:c.2T>G, XM_047439637.1:c.2T>G, XM_047439636.1:c.2T>G, XM_047439628.1:c.2T>G, XM_047439635.1:c.2T>G, XM_047439638.1:c.2T>G, XM_047439633.1:c.2T>G, XM_047439620.1:c.110T>G, XM_047439634.1:c.2T>G, XM_047439618.1:c.110T>G, XM_047439622.1:c.110T>G, XM_047439621.1:c.110T>G, XM_047439639.1:c.2T>G, XM_047439640.1:c.2T>G, XM_047439642.1:c.2T>G, XM_047439616.1:c.110T>G, NM_001322136.1:c.110T>G, XM_047439643.1:c.110T>G, XM_047439646.1:c.110T>G, XM_047439644.1:c.110T>G, XM_047439645.1:c.110T>G, NP_150630.2:p.Met37Arg, NP_942596.1:p.Met37Arg, XP_016882937.1:p.Met37Arg, XP_016882936.1:p.Met56Arg, NP_001309059.1:p.Met37Arg, NP_001309068.1:p.Met1Arg, NP_001309060.1:p.Met37Arg, NP_001309058.1:p.Met37Arg, NP_001309066.1:p.Met1Arg, NP_001309063.1:p.Met37Arg, NP_001309062.1:p.Met37Arg, NP_001309057.1:p.Met37Arg, NP_001096073.1:p.Met37Arg, NP_001309061.1:p.Met37Arg, NP_001309067.1:p.Met1Arg, NP_001309064.1:p.Met37Arg, NP_001309055.1:p.Met37Arg, NP_001309054.1:p.Met37Arg, XP_047295580.1:p.Met56Arg, XP_047295573.1:p.Met56Arg, XP_047295575.1:p.Met37Arg, XP_047295579.1:p.Met37Arg, XP_047295583.1:p.Met1Arg, XP_047295597.1:p.Met1Arg, XP_047295582.1:p.Met1Arg, XP_047295581.1:p.Met1Arg, XP_047295586.1:p.Met1Arg, XP_047295585.1:p.Met1Arg, XP_047295587.1:p.Met1Arg, XP_047295588.1:p.Met1Arg, XP_047295593.1:p.Met1Arg, XP_047295592.1:p.Met1Arg, XP_047295584.1:p.Met1Arg, XP_047295591.1:p.Met1Arg, XP_047295594.1:p.Met1Arg, XP_047295589.1:p.Met1Arg, XP_047295576.1:p.Met37Arg, XP_047295590.1:p.Met1Arg, XP_047295574.1:p.Met37Arg, XP_047295578.1:p.Met37Arg, XP_047295577.1:p.Met37Arg, XP_047295595.1:p.Met1Arg, XP_047295596.1:p.Met1Arg, XP_047295598.1:p.Met1Arg, XP_047295572.1:p.Met37Arg, NP_001309065.1:p.Met37Arg, XP_047295599.1:p.Met37Arg, XP_047295602.1:p.Met37Arg, XP_047295600.1:p.Met37Arg, XP_047295601.1:p.Met37Arg

      3.

      rs1460081259 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        19:53073479 (GRCh38)
        19:53576732 (GRCh37)
        Canonical SPDI:
        NC_000019.10:53073478:A:G
        Gene:
        ZNF160 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1441126991 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          19:53073347 (GRCh38)
          19:53576600 (GRCh37)
          Canonical SPDI:
          NC_000019.10:53073346:G:C
          Gene:
          ZNF160 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1439241890 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            19:53074147 (GRCh38)
            19:53577400 (GRCh37)
            Canonical SPDI:
            NC_000019.10:53074146:C:G,NC_000019.10:53074146:C:T
            Gene:
            ZNF160 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            T=0.000071/1 (TOMMO)
            HGVS:
            NC_000019.10:g.53074147C>G, NC_000019.10:g.53074147C>T, NC_000019.9:g.53577400C>G, NC_000019.9:g.53577400C>T, NM_033288.4:c.264G>C, NM_033288.4:c.264G>A, NM_033288.3:c.264G>C, NM_033288.3:c.264G>A, NM_198893.3:c.264G>C, NM_198893.3:c.264G>A, NM_198893.2:c.264G>C, NM_198893.2:c.264G>A, XM_017027448.3:c.264G>C, XM_017027448.3:c.264G>A, XM_017027448.2:c.264G>C, XM_017027448.2:c.264G>A, XM_017027448.1:c.264G>C, XM_017027448.1:c.264G>A, XM_017027447.3:c.321G>C, XM_017027447.3:c.321G>A, XM_017027447.2:c.321G>C, XM_017027447.2:c.321G>A, XM_017027447.1:c.321G>C, XM_017027447.1:c.321G>A, NM_001322130.2:c.264G>C, NM_001322130.2:c.264G>A, NM_001322130.1:c.264G>C, NM_001322130.1:c.264G>A, NM_001322139.2:c.156G>C, NM_001322139.2:c.156G>A, NM_001322139.1:c.156G>C, NM_001322139.1:c.156G>A, NM_001322131.2:c.264G>C, NM_001322131.2:c.264G>A, NM_001322131.1:c.264G>C, NM_001322131.1:c.264G>A, NM_001322129.2:c.264G>C, NM_001322129.2:c.264G>A, NM_001322129.1:c.264G>C, NM_001322129.1:c.264G>A, NM_001322137.2:c.156G>C, NM_001322137.2:c.156G>A, NM_001322137.1:c.156G>C, NM_001322137.1:c.156G>A, NM_001322134.2:c.264G>C, NM_001322134.2:c.264G>A, NM_001322134.1:c.264G>C, NM_001322134.1:c.264G>A, NM_001322133.2:c.264G>C, NM_001322133.2:c.264G>A, NM_001322133.1:c.264G>C, NM_001322133.1:c.264G>A, NM_001322128.2:c.264G>C, NM_001322128.2:c.264G>A, NM_001322128.1:c.264G>C, NM_001322128.1:c.264G>A, NM_001102603.2:c.264G>C, NM_001102603.2:c.264G>A, NM_001102603.1:c.264G>C, NM_001102603.1:c.264G>A, NM_001322132.2:c.264G>C, NM_001322132.2:c.264G>A, NM_001322132.1:c.264G>C, NM_001322132.1:c.264G>A, NM_001322138.2:c.156G>C, NM_001322138.2:c.156G>A, NM_001322138.1:c.156G>C, NM_001322138.1:c.156G>A, NM_001322135.2:c.264G>C, NM_001322135.2:c.264G>A, NM_001322135.1:c.264G>C, NM_001322135.1:c.264G>A, NM_001322126.2:c.264G>C, NM_001322126.2:c.264G>A, NM_001322126.1:c.264G>C, NM_001322126.1:c.264G>A, NM_001322125.2:c.264G>C, NM_001322125.2:c.264G>A, NM_001322125.1:c.264G>C, NM_001322125.1:c.264G>A, XM_047439624.1:c.321G>C, XM_047439624.1:c.321G>A, XM_047439617.1:c.321G>C, XM_047439617.1:c.321G>A, XM_047439619.1:c.264G>C, XM_047439619.1:c.264G>A, XM_047439623.1:c.264G>C, XM_047439623.1:c.264G>A, XM_047439627.1:c.156G>C, XM_047439627.1:c.156G>A, XM_047439641.1:c.156G>C, XM_047439641.1:c.156G>A, XM_047439626.1:c.156G>C, XM_047439626.1:c.156G>A, XM_047439625.1:c.156G>C, XM_047439625.1:c.156G>A, XM_047439630.1:c.156G>C, XM_047439630.1:c.156G>A, XM_047439629.1:c.156G>C, XM_047439629.1:c.156G>A, XM_047439631.1:c.156G>C, XM_047439631.1:c.156G>A, XM_047439632.1:c.156G>C, XM_047439632.1:c.156G>A, XM_047439637.1:c.156G>C, XM_047439637.1:c.156G>A, XM_047439636.1:c.156G>C, XM_047439636.1:c.156G>A, XM_047439628.1:c.156G>C, XM_047439628.1:c.156G>A, XM_047439635.1:c.156G>C, XM_047439635.1:c.156G>A, XM_047439638.1:c.156G>C, XM_047439638.1:c.156G>A, XM_047439633.1:c.156G>C, XM_047439633.1:c.156G>A, XM_047439620.1:c.264G>C, XM_047439620.1:c.264G>A, XM_047439634.1:c.156G>C, XM_047439634.1:c.156G>A, XM_047439618.1:c.264G>C, XM_047439618.1:c.264G>A, XM_047439622.1:c.264G>C, XM_047439622.1:c.264G>A, XM_047439621.1:c.264G>C, XM_047439621.1:c.264G>A, XM_047439639.1:c.156G>C, XM_047439639.1:c.156G>A, XM_047439640.1:c.156G>C, XM_047439640.1:c.156G>A, XM_047439642.1:c.156G>C, XM_047439642.1:c.156G>A, XM_047439616.1:c.264G>C, XM_047439616.1:c.264G>A, NM_001322136.1:c.264G>C, NM_001322136.1:c.264G>A, XM_047439643.1:c.264G>C, XM_047439643.1:c.264G>A, XM_047439646.1:c.264G>C, XM_047439646.1:c.264G>A, XM_047439644.1:c.264G>C, XM_047439644.1:c.264G>A, XM_047439645.1:c.264G>C, XM_047439645.1:c.264G>A

            6.

            rs1438809732 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C,T [Show Flanks]
              Chromosome:
              19:53075148 (GRCh38)
              19:53578401 (GRCh37)
              Canonical SPDI:
              NC_000019.10:53075147:G:C,NC_000019.10:53075147:G:T
              Gene:
              ZNF160 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000019.10:g.53075148G>C, NC_000019.10:g.53075148G>T, NC_000019.9:g.53578401G>C, NC_000019.9:g.53578401G>T, NM_033288.4:c.51C>G, NM_033288.4:c.51C>A, NM_033288.3:c.51C>G, NM_033288.3:c.51C>A, NM_198893.3:c.51C>G, NM_198893.3:c.51C>A, NM_198893.2:c.51C>G, NM_198893.2:c.51C>A, XM_017027448.3:c.51C>G, XM_017027448.3:c.51C>A, XM_017027448.2:c.51C>G, XM_017027448.2:c.51C>A, XM_017027448.1:c.51C>G, XM_017027448.1:c.51C>A, XM_017027447.3:c.108C>G, XM_017027447.3:c.108C>A, XM_017027447.2:c.108C>G, XM_017027447.2:c.108C>A, XM_017027447.1:c.108C>G, XM_017027447.1:c.108C>A, NM_001322130.2:c.51C>G, NM_001322130.2:c.51C>A, NM_001322130.1:c.51C>G, NM_001322130.1:c.51C>A, NM_001322139.2:c.-58C>G, NM_001322139.2:c.-58C>A, NM_001322139.1:c.-58C>G, NM_001322139.1:c.-58C>A, NM_001322131.2:c.51C>G, NM_001322131.2:c.51C>A, NM_001322131.1:c.51C>G, NM_001322131.1:c.51C>A, NM_001322129.2:c.51C>G, NM_001322129.2:c.51C>A, NM_001322129.1:c.51C>G, NM_001322129.1:c.51C>A, NM_001322137.2:c.-58C>G, NM_001322137.2:c.-58C>A, NM_001322137.1:c.-58C>G, NM_001322137.1:c.-58C>A, NM_001322134.2:c.51C>G, NM_001322134.2:c.51C>A, NM_001322134.1:c.51C>G, NM_001322134.1:c.51C>A, NM_001322133.2:c.51C>G, NM_001322133.2:c.51C>A, NM_001322133.1:c.51C>G, NM_001322133.1:c.51C>A, NM_001322128.2:c.51C>G, NM_001322128.2:c.51C>A, NM_001322128.1:c.51C>G, NM_001322128.1:c.51C>A, NM_001102603.2:c.51C>G, NM_001102603.2:c.51C>A, NM_001102603.1:c.51C>G, NM_001102603.1:c.51C>A, NM_001322132.2:c.51C>G, NM_001322132.2:c.51C>A, NM_001322132.1:c.51C>G, NM_001322132.1:c.51C>A, NM_001322138.2:c.-58C>G, NM_001322138.2:c.-58C>A, NM_001322138.1:c.-58C>G, NM_001322138.1:c.-58C>A, NM_001322135.2:c.51C>G, NM_001322135.2:c.51C>A, NM_001322135.1:c.51C>G, NM_001322135.1:c.51C>A, NM_001322126.2:c.51C>G, NM_001322126.2:c.51C>A, NM_001322126.1:c.51C>G, NM_001322126.1:c.51C>A, NM_001322125.2:c.51C>G, NM_001322125.2:c.51C>A, NM_001322125.1:c.51C>G, NM_001322125.1:c.51C>A, XM_047439624.1:c.108C>G, XM_047439624.1:c.108C>A, XM_047439617.1:c.108C>G, XM_047439617.1:c.108C>A, XM_047439619.1:c.51C>G, XM_047439619.1:c.51C>A, XM_047439623.1:c.51C>G, XM_047439623.1:c.51C>A, XM_047439627.1:c.-58C>G, XM_047439627.1:c.-58C>A, XM_047439641.1:c.-58C>G, XM_047439641.1:c.-58C>A, XM_047439626.1:c.-58C>G, XM_047439626.1:c.-58C>A, XM_047439625.1:c.-58C>G, XM_047439625.1:c.-58C>A, XM_047439630.1:c.-58C>G, XM_047439630.1:c.-58C>A, XM_047439629.1:c.-58C>G, XM_047439629.1:c.-58C>A, XM_047439631.1:c.-58C>G, XM_047439631.1:c.-58C>A, XM_047439632.1:c.-58C>G, XM_047439632.1:c.-58C>A, XM_047439637.1:c.-58C>G, XM_047439637.1:c.-58C>A, XM_047439636.1:c.-58C>G, XM_047439636.1:c.-58C>A, XM_047439628.1:c.-58C>G, XM_047439628.1:c.-58C>A, XM_047439635.1:c.-58C>G, XM_047439635.1:c.-58C>A, XM_047439638.1:c.-58C>G, XM_047439638.1:c.-58C>A, XM_047439633.1:c.-58C>G, XM_047439633.1:c.-58C>A, XM_047439620.1:c.51C>G, XM_047439620.1:c.51C>A, XM_047439634.1:c.-58C>G, XM_047439634.1:c.-58C>A, XM_047439618.1:c.51C>G, XM_047439618.1:c.51C>A, XM_047439622.1:c.51C>G, XM_047439622.1:c.51C>A, XM_047439621.1:c.51C>G, XM_047439621.1:c.51C>A, XM_047439639.1:c.-58C>G, XM_047439639.1:c.-58C>A, XM_047439640.1:c.-58C>G, XM_047439640.1:c.-58C>A, XM_047439642.1:c.-58C>G, XM_047439642.1:c.-58C>A, XM_047439616.1:c.51C>G, XM_047439616.1:c.51C>A, NM_001322136.1:c.51C>G, NM_001322136.1:c.51C>A, XM_047439643.1:c.51C>G, XM_047439643.1:c.51C>A, XM_047439646.1:c.51C>G, XM_047439646.1:c.51C>A, XM_047439644.1:c.51C>G, XM_047439644.1:c.51C>A, XM_047439645.1:c.51C>G, XM_047439645.1:c.51C>A, NP_150630.2:p.Phe17Leu, NP_150630.2:p.Phe17Leu, NP_942596.1:p.Phe17Leu, NP_942596.1:p.Phe17Leu, XP_016882937.1:p.Phe17Leu, XP_016882937.1:p.Phe17Leu, XP_016882936.1:p.Phe36Leu, XP_016882936.1:p.Phe36Leu, NP_001309059.1:p.Phe17Leu, NP_001309059.1:p.Phe17Leu, NP_001309060.1:p.Phe17Leu, NP_001309060.1:p.Phe17Leu, NP_001309058.1:p.Phe17Leu, NP_001309058.1:p.Phe17Leu, NP_001309063.1:p.Phe17Leu, NP_001309063.1:p.Phe17Leu, NP_001309062.1:p.Phe17Leu, NP_001309062.1:p.Phe17Leu, NP_001309057.1:p.Phe17Leu, NP_001309057.1:p.Phe17Leu, NP_001096073.1:p.Phe17Leu, NP_001096073.1:p.Phe17Leu, NP_001309061.1:p.Phe17Leu, NP_001309061.1:p.Phe17Leu, NP_001309064.1:p.Phe17Leu, NP_001309064.1:p.Phe17Leu, NP_001309055.1:p.Phe17Leu, NP_001309055.1:p.Phe17Leu, NP_001309054.1:p.Phe17Leu, NP_001309054.1:p.Phe17Leu, XP_047295580.1:p.Phe36Leu, XP_047295580.1:p.Phe36Leu, XP_047295573.1:p.Phe36Leu, XP_047295573.1:p.Phe36Leu, XP_047295575.1:p.Phe17Leu, XP_047295575.1:p.Phe17Leu, XP_047295579.1:p.Phe17Leu, XP_047295579.1:p.Phe17Leu, XP_047295576.1:p.Phe17Leu, XP_047295576.1:p.Phe17Leu, XP_047295574.1:p.Phe17Leu, XP_047295574.1:p.Phe17Leu, XP_047295578.1:p.Phe17Leu, XP_047295578.1:p.Phe17Leu, XP_047295577.1:p.Phe17Leu, XP_047295577.1:p.Phe17Leu, XP_047295572.1:p.Phe17Leu, XP_047295572.1:p.Phe17Leu, NP_001309065.1:p.Phe17Leu, NP_001309065.1:p.Phe17Leu, XP_047295599.1:p.Phe17Leu, XP_047295599.1:p.Phe17Leu, XP_047295602.1:p.Phe17Leu, XP_047295602.1:p.Phe17Leu, XP_047295600.1:p.Phe17Leu, XP_047295600.1:p.Phe17Leu, XP_047295601.1:p.Phe17Leu, XP_047295601.1:p.Phe17Leu

              7.

              rs1436733578 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:53074212 (GRCh38)
                19:53577465 (GRCh37)
                Canonical SPDI:
                NC_000019.10:53074211:A:G
                Gene:
                ZNF160 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000019.10:g.53074212A>G, NC_000019.9:g.53577465A>G, NM_033288.4:c.199T>C, NM_033288.3:c.199T>C, NM_198893.3:c.199T>C, NM_198893.2:c.199T>C, XM_017027448.3:c.199T>C, XM_017027448.2:c.199T>C, XM_017027448.1:c.199T>C, XM_017027447.3:c.256T>C, XM_017027447.2:c.256T>C, XM_017027447.1:c.256T>C, NM_001322130.2:c.199T>C, NM_001322130.1:c.199T>C, NM_001322139.2:c.91T>C, NM_001322139.1:c.91T>C, NM_001322131.2:c.199T>C, NM_001322131.1:c.199T>C, NM_001322129.2:c.199T>C, NM_001322129.1:c.199T>C, NM_001322137.2:c.91T>C, NM_001322137.1:c.91T>C, NM_001322134.2:c.199T>C, NM_001322134.1:c.199T>C, NM_001322133.2:c.199T>C, NM_001322133.1:c.199T>C, NM_001322128.2:c.199T>C, NM_001322128.1:c.199T>C, NM_001102603.2:c.199T>C, NM_001102603.1:c.199T>C, NM_001322132.2:c.199T>C, NM_001322132.1:c.199T>C, NM_001322138.2:c.91T>C, NM_001322138.1:c.91T>C, NM_001322135.2:c.199T>C, NM_001322135.1:c.199T>C, NM_001322126.2:c.199T>C, NM_001322126.1:c.199T>C, NM_001322125.2:c.199T>C, NM_001322125.1:c.199T>C, XM_047439624.1:c.256T>C, XM_047439617.1:c.256T>C, XM_047439619.1:c.199T>C, XM_047439623.1:c.199T>C, XM_047439627.1:c.91T>C, XM_047439641.1:c.91T>C, XM_047439626.1:c.91T>C, XM_047439625.1:c.91T>C, XM_047439630.1:c.91T>C, XM_047439629.1:c.91T>C, XM_047439631.1:c.91T>C, XM_047439632.1:c.91T>C, XM_047439637.1:c.91T>C, XM_047439636.1:c.91T>C, XM_047439628.1:c.91T>C, XM_047439635.1:c.91T>C, XM_047439638.1:c.91T>C, XM_047439633.1:c.91T>C, XM_047439620.1:c.199T>C, XM_047439634.1:c.91T>C, XM_047439618.1:c.199T>C, XM_047439622.1:c.199T>C, XM_047439621.1:c.199T>C, XM_047439639.1:c.91T>C, XM_047439640.1:c.91T>C, XM_047439642.1:c.91T>C, XM_047439616.1:c.199T>C, NM_001322136.1:c.199T>C, XM_047439643.1:c.199T>C, XM_047439646.1:c.199T>C, XM_047439644.1:c.199T>C, XM_047439645.1:c.199T>C, NP_150630.2:p.Trp67Arg, NP_942596.1:p.Trp67Arg, XP_016882937.1:p.Trp67Arg, XP_016882936.1:p.Trp86Arg, NP_001309059.1:p.Trp67Arg, NP_001309068.1:p.Trp31Arg, NP_001309060.1:p.Trp67Arg, NP_001309058.1:p.Trp67Arg, NP_001309066.1:p.Trp31Arg, NP_001309063.1:p.Trp67Arg, NP_001309062.1:p.Trp67Arg, NP_001309057.1:p.Trp67Arg, NP_001096073.1:p.Trp67Arg, NP_001309061.1:p.Trp67Arg, NP_001309067.1:p.Trp31Arg, NP_001309064.1:p.Trp67Arg, NP_001309055.1:p.Trp67Arg, NP_001309054.1:p.Trp67Arg, XP_047295580.1:p.Trp86Arg, XP_047295573.1:p.Trp86Arg, XP_047295575.1:p.Trp67Arg, XP_047295579.1:p.Trp67Arg, XP_047295583.1:p.Trp31Arg, XP_047295597.1:p.Trp31Arg, XP_047295582.1:p.Trp31Arg, XP_047295581.1:p.Trp31Arg, XP_047295586.1:p.Trp31Arg, XP_047295585.1:p.Trp31Arg, XP_047295587.1:p.Trp31Arg, XP_047295588.1:p.Trp31Arg, XP_047295593.1:p.Trp31Arg, XP_047295592.1:p.Trp31Arg, XP_047295584.1:p.Trp31Arg, XP_047295591.1:p.Trp31Arg, XP_047295594.1:p.Trp31Arg, XP_047295589.1:p.Trp31Arg, XP_047295576.1:p.Trp67Arg, XP_047295590.1:p.Trp31Arg, XP_047295574.1:p.Trp67Arg, XP_047295578.1:p.Trp67Arg, XP_047295577.1:p.Trp67Arg, XP_047295595.1:p.Trp31Arg, XP_047295596.1:p.Trp31Arg, XP_047295598.1:p.Trp31Arg, XP_047295572.1:p.Trp67Arg, NP_001309065.1:p.Trp67Arg, XP_047295599.1:p.Trp67Arg, XP_047295602.1:p.Trp67Arg, XP_047295600.1:p.Trp67Arg, XP_047295601.1:p.Trp67Arg

                8.

                rs1436636793 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  19:53075178 (GRCh38)
                  19:53578431 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:53075177:C:G
                  Gene:
                  ZNF160 (Varview)
                  Functional Consequence:
                  synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000019.10:g.53075178C>G, NC_000019.9:g.53578431C>G, NM_033288.4:c.21G>C, NM_033288.3:c.21G>C, NM_198893.3:c.21G>C, NM_198893.2:c.21G>C, XM_017027448.3:c.21G>C, XM_017027448.2:c.21G>C, XM_017027448.1:c.21G>C, XM_017027447.3:c.78G>C, XM_017027447.2:c.78G>C, XM_017027447.1:c.78G>C, NM_001322130.2:c.21G>C, NM_001322130.1:c.21G>C, NM_001322139.2:c.-88G>C, NM_001322139.1:c.-88G>C, NM_001322131.2:c.21G>C, NM_001322131.1:c.21G>C, NM_001322129.2:c.21G>C, NM_001322129.1:c.21G>C, NM_001322137.2:c.-88G>C, NM_001322137.1:c.-88G>C, NM_001322134.2:c.21G>C, NM_001322134.1:c.21G>C, NM_001322133.2:c.21G>C, NM_001322133.1:c.21G>C, NM_001322128.2:c.21G>C, NM_001322128.1:c.21G>C, NM_001102603.2:c.21G>C, NM_001102603.1:c.21G>C, NM_001322132.2:c.21G>C, NM_001322132.1:c.21G>C, NM_001322138.2:c.-88G>C, NM_001322138.1:c.-88G>C, NM_001322135.2:c.21G>C, NM_001322135.1:c.21G>C, NM_001322126.2:c.21G>C, NM_001322126.1:c.21G>C, NM_001322125.2:c.21G>C, NM_001322125.1:c.21G>C, XM_047439624.1:c.78G>C, XM_047439617.1:c.78G>C, XM_047439619.1:c.21G>C, XM_047439623.1:c.21G>C, XM_047439627.1:c.-88G>C, XM_047439641.1:c.-88G>C, XM_047439626.1:c.-88G>C, XM_047439625.1:c.-88G>C, XM_047439630.1:c.-88G>C, XM_047439629.1:c.-88G>C, XM_047439631.1:c.-88G>C, XM_047439632.1:c.-88G>C, XM_047439637.1:c.-88G>C, XM_047439636.1:c.-88G>C, XM_047439628.1:c.-88G>C, XM_047439635.1:c.-88G>C, XM_047439638.1:c.-88G>C, XM_047439633.1:c.-88G>C, XM_047439620.1:c.21G>C, XM_047439634.1:c.-88G>C, XM_047439618.1:c.21G>C, XM_047439622.1:c.21G>C, XM_047439621.1:c.21G>C, XM_047439639.1:c.-88G>C, XM_047439640.1:c.-88G>C, XM_047439642.1:c.-88G>C, XM_047439616.1:c.21G>C, NM_001322136.1:c.21G>C, XM_047439643.1:c.21G>C, XM_047439646.1:c.21G>C, XM_047439644.1:c.21G>C, XM_047439645.1:c.21G>C

                  9.

                  rs1430968591 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:53073358 (GRCh38)
                    19:53576611 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:53073357:C:T
                    Gene:
                    ZNF160 (Varview)
                    Functional Consequence:
                    intron_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:

                    10.

                    rs1421830084 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      19:53074192 (GRCh38)
                      19:53577445 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:53074191:C:G
                      Gene:
                      ZNF160 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000019.10:g.53074192C>G, NC_000019.9:g.53577445C>G, NM_033288.4:c.219G>C, NM_033288.3:c.219G>C, NM_198893.3:c.219G>C, NM_198893.2:c.219G>C, XM_017027448.3:c.219G>C, XM_017027448.2:c.219G>C, XM_017027448.1:c.219G>C, XM_017027447.3:c.276G>C, XM_017027447.2:c.276G>C, XM_017027447.1:c.276G>C, NM_001322130.2:c.219G>C, NM_001322130.1:c.219G>C, NM_001322139.2:c.111G>C, NM_001322139.1:c.111G>C, NM_001322131.2:c.219G>C, NM_001322131.1:c.219G>C, NM_001322129.2:c.219G>C, NM_001322129.1:c.219G>C, NM_001322137.2:c.111G>C, NM_001322137.1:c.111G>C, NM_001322134.2:c.219G>C, NM_001322134.1:c.219G>C, NM_001322133.2:c.219G>C, NM_001322133.1:c.219G>C, NM_001322128.2:c.219G>C, NM_001322128.1:c.219G>C, NM_001102603.2:c.219G>C, NM_001102603.1:c.219G>C, NM_001322132.2:c.219G>C, NM_001322132.1:c.219G>C, NM_001322138.2:c.111G>C, NM_001322138.1:c.111G>C, NM_001322135.2:c.219G>C, NM_001322135.1:c.219G>C, NM_001322126.2:c.219G>C, NM_001322126.1:c.219G>C, NM_001322125.2:c.219G>C, NM_001322125.1:c.219G>C, XM_047439624.1:c.276G>C, XM_047439617.1:c.276G>C, XM_047439619.1:c.219G>C, XM_047439623.1:c.219G>C, XM_047439627.1:c.111G>C, XM_047439641.1:c.111G>C, XM_047439626.1:c.111G>C, XM_047439625.1:c.111G>C, XM_047439630.1:c.111G>C, XM_047439629.1:c.111G>C, XM_047439631.1:c.111G>C, XM_047439632.1:c.111G>C, XM_047439637.1:c.111G>C, XM_047439636.1:c.111G>C, XM_047439628.1:c.111G>C, XM_047439635.1:c.111G>C, XM_047439638.1:c.111G>C, XM_047439633.1:c.111G>C, XM_047439620.1:c.219G>C, XM_047439634.1:c.111G>C, XM_047439618.1:c.219G>C, XM_047439622.1:c.219G>C, XM_047439621.1:c.219G>C, XM_047439639.1:c.111G>C, XM_047439640.1:c.111G>C, XM_047439642.1:c.111G>C, XM_047439616.1:c.219G>C, NM_001322136.1:c.219G>C, XM_047439643.1:c.219G>C, XM_047439646.1:c.219G>C, XM_047439644.1:c.219G>C, XM_047439645.1:c.219G>C

                      11.

                      rs1421778068 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        19:53074177 (GRCh38)
                        19:53577430 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:53074176:T:G
                        Gene:
                        ZNF160 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000019.10:g.53074177T>G, NC_000019.9:g.53577430T>G, NM_033288.4:c.234A>C, NM_033288.3:c.234A>C, NM_198893.3:c.234A>C, NM_198893.2:c.234A>C, XM_017027448.3:c.234A>C, XM_017027448.2:c.234A>C, XM_017027448.1:c.234A>C, XM_017027447.3:c.291A>C, XM_017027447.2:c.291A>C, XM_017027447.1:c.291A>C, NM_001322130.2:c.234A>C, NM_001322130.1:c.234A>C, NM_001322139.2:c.126A>C, NM_001322139.1:c.126A>C, NM_001322131.2:c.234A>C, NM_001322131.1:c.234A>C, NM_001322129.2:c.234A>C, NM_001322129.1:c.234A>C, NM_001322137.2:c.126A>C, NM_001322137.1:c.126A>C, NM_001322134.2:c.234A>C, NM_001322134.1:c.234A>C, NM_001322133.2:c.234A>C, NM_001322133.1:c.234A>C, NM_001322128.2:c.234A>C, NM_001322128.1:c.234A>C, NM_001102603.2:c.234A>C, NM_001102603.1:c.234A>C, NM_001322132.2:c.234A>C, NM_001322132.1:c.234A>C, NM_001322138.2:c.126A>C, NM_001322138.1:c.126A>C, NM_001322135.2:c.234A>C, NM_001322135.1:c.234A>C, NM_001322126.2:c.234A>C, NM_001322126.1:c.234A>C, NM_001322125.2:c.234A>C, NM_001322125.1:c.234A>C, XM_047439624.1:c.291A>C, XM_047439617.1:c.291A>C, XM_047439619.1:c.234A>C, XM_047439623.1:c.234A>C, XM_047439627.1:c.126A>C, XM_047439641.1:c.126A>C, XM_047439626.1:c.126A>C, XM_047439625.1:c.126A>C, XM_047439630.1:c.126A>C, XM_047439629.1:c.126A>C, XM_047439631.1:c.126A>C, XM_047439632.1:c.126A>C, XM_047439637.1:c.126A>C, XM_047439636.1:c.126A>C, XM_047439628.1:c.126A>C, XM_047439635.1:c.126A>C, XM_047439638.1:c.126A>C, XM_047439633.1:c.126A>C, XM_047439620.1:c.234A>C, XM_047439634.1:c.126A>C, XM_047439618.1:c.234A>C, XM_047439622.1:c.234A>C, XM_047439621.1:c.234A>C, XM_047439639.1:c.126A>C, XM_047439640.1:c.126A>C, XM_047439642.1:c.126A>C, XM_047439616.1:c.234A>C, NM_001322136.1:c.234A>C, XM_047439643.1:c.234A>C, XM_047439646.1:c.234A>C, XM_047439644.1:c.234A>C, XM_047439645.1:c.234A>C, NP_150630.2:p.Lys78Asn, NP_942596.1:p.Lys78Asn, XP_016882937.1:p.Lys78Asn, XP_016882936.1:p.Lys97Asn, NP_001309059.1:p.Lys78Asn, NP_001309068.1:p.Lys42Asn, NP_001309060.1:p.Lys78Asn, NP_001309058.1:p.Lys78Asn, NP_001309066.1:p.Lys42Asn, NP_001309063.1:p.Lys78Asn, NP_001309062.1:p.Lys78Asn, NP_001309057.1:p.Lys78Asn, NP_001096073.1:p.Lys78Asn, NP_001309061.1:p.Lys78Asn, NP_001309067.1:p.Lys42Asn, NP_001309064.1:p.Lys78Asn, NP_001309055.1:p.Lys78Asn, NP_001309054.1:p.Lys78Asn, XP_047295580.1:p.Lys97Asn, XP_047295573.1:p.Lys97Asn, XP_047295575.1:p.Lys78Asn, XP_047295579.1:p.Lys78Asn, XP_047295583.1:p.Lys42Asn, XP_047295597.1:p.Lys42Asn, XP_047295582.1:p.Lys42Asn, XP_047295581.1:p.Lys42Asn, XP_047295586.1:p.Lys42Asn, XP_047295585.1:p.Lys42Asn, XP_047295587.1:p.Lys42Asn, XP_047295588.1:p.Lys42Asn, XP_047295593.1:p.Lys42Asn, XP_047295592.1:p.Lys42Asn, XP_047295584.1:p.Lys42Asn, XP_047295591.1:p.Lys42Asn, XP_047295594.1:p.Lys42Asn, XP_047295589.1:p.Lys42Asn, XP_047295576.1:p.Lys78Asn, XP_047295590.1:p.Lys42Asn, XP_047295574.1:p.Lys78Asn, XP_047295578.1:p.Lys78Asn, XP_047295577.1:p.Lys78Asn, XP_047295595.1:p.Lys42Asn, XP_047295596.1:p.Lys42Asn, XP_047295598.1:p.Lys42Asn, XP_047295572.1:p.Lys78Asn, NP_001309065.1:p.Lys78Asn, XP_047295599.1:p.Lys78Asn, XP_047295602.1:p.Lys78Asn, XP_047295600.1:p.Lys78Asn, XP_047295601.1:p.Lys78Asn

                        12.

                        rs1419287795 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:53073475 (GRCh38)
                          19:53576728 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:53073474:G:A
                          Gene:
                          ZNF160 (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000009/2 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1410781902 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            19:53073455 (GRCh38)
                            19:53576708 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:53073454:T:C
                            Gene:
                            ZNF160 (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1384443883 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              19:53073367 (GRCh38)
                              19:53576620 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:53073366:C:A,NC_000019.10:53073366:C:T
                              Gene:
                              ZNF160 (Varview)
                              Functional Consequence:
                              intron_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.53073367C>A, NC_000019.10:g.53073367C>T, NC_000019.9:g.53576620C>A, NC_000019.9:g.53576620C>T, XM_017027448.3:c.414G>T, XM_017027448.3:c.414G>A, XM_017027448.2:c.414G>T, XM_017027448.2:c.414G>A, XM_017027448.1:c.414G>T, XM_017027448.1:c.414G>A, XM_017027447.3:c.471G>T, XM_017027447.3:c.471G>A, XM_017027447.2:c.471G>T, XM_017027447.2:c.471G>A, XM_017027447.1:c.471G>T, XM_017027447.1:c.471G>A, NM_001322126.2:c.414G>T, NM_001322126.2:c.414G>A, NM_001322126.1:c.414G>T, NM_001322126.1:c.414G>A, NM_001322125.2:c.414G>T, NM_001322125.2:c.414G>A, NM_001322125.1:c.414G>T, NM_001322125.1:c.414G>A, XM_047439643.1:c.414G>T, XM_047439643.1:c.414G>A, XM_047439646.1:c.414G>T, XM_047439646.1:c.414G>A, XM_047439644.1:c.414G>T, XM_047439644.1:c.414G>A, XM_047439645.1:c.414G>T, XM_047439645.1:c.414G>A

                              15.

                              rs1376313872 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:53073416 (GRCh38)
                                19:53576669 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:53073415:C:T
                                Gene:
                                ZNF160 (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1357541979 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  19:53075078 (GRCh38)
                                  19:53578331 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:53075077:A:G
                                  Gene:
                                  ZNF160 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.53075078A>G, NC_000019.9:g.53578331A>G, NM_033288.4:c.121T>C, NM_033288.3:c.121T>C, NM_198893.3:c.121T>C, NM_198893.2:c.121T>C, XM_017027448.3:c.121T>C, XM_017027448.2:c.121T>C, XM_017027448.1:c.121T>C, XM_017027447.3:c.178T>C, XM_017027447.2:c.178T>C, XM_017027447.1:c.178T>C, NM_001322130.2:c.121T>C, NM_001322130.1:c.121T>C, NM_001322139.2:c.13T>C, NM_001322139.1:c.13T>C, NM_001322131.2:c.121T>C, NM_001322131.1:c.121T>C, NM_001322129.2:c.121T>C, NM_001322129.1:c.121T>C, NM_001322137.2:c.13T>C, NM_001322137.1:c.13T>C, NM_001322134.2:c.121T>C, NM_001322134.1:c.121T>C, NM_001322133.2:c.121T>C, NM_001322133.1:c.121T>C, NM_001322128.2:c.121T>C, NM_001322128.1:c.121T>C, NM_001102603.2:c.121T>C, NM_001102603.1:c.121T>C, NM_001322132.2:c.121T>C, NM_001322132.1:c.121T>C, NM_001322138.2:c.13T>C, NM_001322138.1:c.13T>C, NM_001322135.2:c.121T>C, NM_001322135.1:c.121T>C, NM_001322126.2:c.121T>C, NM_001322126.1:c.121T>C, NM_001322125.2:c.121T>C, NM_001322125.1:c.121T>C, XM_047439624.1:c.178T>C, XM_047439617.1:c.178T>C, XM_047439619.1:c.121T>C, XM_047439623.1:c.121T>C, XM_047439627.1:c.13T>C, XM_047439641.1:c.13T>C, XM_047439626.1:c.13T>C, XM_047439625.1:c.13T>C, XM_047439630.1:c.13T>C, XM_047439629.1:c.13T>C, XM_047439631.1:c.13T>C, XM_047439632.1:c.13T>C, XM_047439637.1:c.13T>C, XM_047439636.1:c.13T>C, XM_047439628.1:c.13T>C, XM_047439635.1:c.13T>C, XM_047439638.1:c.13T>C, XM_047439633.1:c.13T>C, XM_047439620.1:c.121T>C, XM_047439634.1:c.13T>C, XM_047439618.1:c.121T>C, XM_047439622.1:c.121T>C, XM_047439621.1:c.121T>C, XM_047439639.1:c.13T>C, XM_047439640.1:c.13T>C, XM_047439642.1:c.13T>C, XM_047439616.1:c.121T>C, NM_001322136.1:c.121T>C, XM_047439643.1:c.121T>C, XM_047439646.1:c.121T>C, XM_047439644.1:c.121T>C, XM_047439645.1:c.121T>C, NP_150630.2:p.Tyr41His, NP_942596.1:p.Tyr41His, XP_016882937.1:p.Tyr41His, XP_016882936.1:p.Tyr60His, NP_001309059.1:p.Tyr41His, NP_001309068.1:p.Tyr5His, NP_001309060.1:p.Tyr41His, NP_001309058.1:p.Tyr41His, NP_001309066.1:p.Tyr5His, NP_001309063.1:p.Tyr41His, NP_001309062.1:p.Tyr41His, NP_001309057.1:p.Tyr41His, NP_001096073.1:p.Tyr41His, NP_001309061.1:p.Tyr41His, NP_001309067.1:p.Tyr5His, NP_001309064.1:p.Tyr41His, NP_001309055.1:p.Tyr41His, NP_001309054.1:p.Tyr41His, XP_047295580.1:p.Tyr60His, XP_047295573.1:p.Tyr60His, XP_047295575.1:p.Tyr41His, XP_047295579.1:p.Tyr41His, XP_047295583.1:p.Tyr5His, XP_047295597.1:p.Tyr5His, XP_047295582.1:p.Tyr5His, XP_047295581.1:p.Tyr5His, XP_047295586.1:p.Tyr5His, XP_047295585.1:p.Tyr5His, XP_047295587.1:p.Tyr5His, XP_047295588.1:p.Tyr5His, XP_047295593.1:p.Tyr5His, XP_047295592.1:p.Tyr5His, XP_047295584.1:p.Tyr5His, XP_047295591.1:p.Tyr5His, XP_047295594.1:p.Tyr5His, XP_047295589.1:p.Tyr5His, XP_047295576.1:p.Tyr41His, XP_047295590.1:p.Tyr5His, XP_047295574.1:p.Tyr41His, XP_047295578.1:p.Tyr41His, XP_047295577.1:p.Tyr41His, XP_047295595.1:p.Tyr5His, XP_047295596.1:p.Tyr5His, XP_047295598.1:p.Tyr5His, XP_047295572.1:p.Tyr41His, NP_001309065.1:p.Tyr41His, XP_047295599.1:p.Tyr41His, XP_047295602.1:p.Tyr41His, XP_047295600.1:p.Tyr41His, XP_047295601.1:p.Tyr41His

                                  17.

                                  rs1355438866 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:53075083 (GRCh38)
                                    19:53578336 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:53075082:T:C
                                    Gene:
                                    ZNF160 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000019.10:g.53075083T>C, NC_000019.9:g.53578336T>C, NM_033288.4:c.116A>G, NM_033288.3:c.116A>G, NM_198893.3:c.116A>G, NM_198893.2:c.116A>G, XM_017027448.3:c.116A>G, XM_017027448.2:c.116A>G, XM_017027448.1:c.116A>G, XM_017027447.3:c.173A>G, XM_017027447.2:c.173A>G, XM_017027447.1:c.173A>G, NM_001322130.2:c.116A>G, NM_001322130.1:c.116A>G, NM_001322139.2:c.8A>G, NM_001322139.1:c.8A>G, NM_001322131.2:c.116A>G, NM_001322131.1:c.116A>G, NM_001322129.2:c.116A>G, NM_001322129.1:c.116A>G, NM_001322137.2:c.8A>G, NM_001322137.1:c.8A>G, NM_001322134.2:c.116A>G, NM_001322134.1:c.116A>G, NM_001322133.2:c.116A>G, NM_001322133.1:c.116A>G, NM_001322128.2:c.116A>G, NM_001322128.1:c.116A>G, NM_001102603.2:c.116A>G, NM_001102603.1:c.116A>G, NM_001322132.2:c.116A>G, NM_001322132.1:c.116A>G, NM_001322138.2:c.8A>G, NM_001322138.1:c.8A>G, NM_001322135.2:c.116A>G, NM_001322135.1:c.116A>G, NM_001322126.2:c.116A>G, NM_001322126.1:c.116A>G, NM_001322125.2:c.116A>G, NM_001322125.1:c.116A>G, XM_047439624.1:c.173A>G, XM_047439617.1:c.173A>G, XM_047439619.1:c.116A>G, XM_047439623.1:c.116A>G, XM_047439627.1:c.8A>G, XM_047439641.1:c.8A>G, XM_047439626.1:c.8A>G, XM_047439625.1:c.8A>G, XM_047439630.1:c.8A>G, XM_047439629.1:c.8A>G, XM_047439631.1:c.8A>G, XM_047439632.1:c.8A>G, XM_047439637.1:c.8A>G, XM_047439636.1:c.8A>G, XM_047439628.1:c.8A>G, XM_047439635.1:c.8A>G, XM_047439638.1:c.8A>G, XM_047439633.1:c.8A>G, XM_047439620.1:c.116A>G, XM_047439634.1:c.8A>G, XM_047439618.1:c.116A>G, XM_047439622.1:c.116A>G, XM_047439621.1:c.116A>G, XM_047439639.1:c.8A>G, XM_047439640.1:c.8A>G, XM_047439642.1:c.8A>G, XM_047439616.1:c.116A>G, NM_001322136.1:c.116A>G, XM_047439643.1:c.116A>G, XM_047439646.1:c.116A>G, XM_047439644.1:c.116A>G, XM_047439645.1:c.116A>G, NP_150630.2:p.Glu39Gly, NP_942596.1:p.Glu39Gly, XP_016882937.1:p.Glu39Gly, XP_016882936.1:p.Glu58Gly, NP_001309059.1:p.Glu39Gly, NP_001309068.1:p.Glu3Gly, NP_001309060.1:p.Glu39Gly, NP_001309058.1:p.Glu39Gly, NP_001309066.1:p.Glu3Gly, NP_001309063.1:p.Glu39Gly, NP_001309062.1:p.Glu39Gly, NP_001309057.1:p.Glu39Gly, NP_001096073.1:p.Glu39Gly, NP_001309061.1:p.Glu39Gly, NP_001309067.1:p.Glu3Gly, NP_001309064.1:p.Glu39Gly, NP_001309055.1:p.Glu39Gly, NP_001309054.1:p.Glu39Gly, XP_047295580.1:p.Glu58Gly, XP_047295573.1:p.Glu58Gly, XP_047295575.1:p.Glu39Gly, XP_047295579.1:p.Glu39Gly, XP_047295583.1:p.Glu3Gly, XP_047295597.1:p.Glu3Gly, XP_047295582.1:p.Glu3Gly, XP_047295581.1:p.Glu3Gly, XP_047295586.1:p.Glu3Gly, XP_047295585.1:p.Glu3Gly, XP_047295587.1:p.Glu3Gly, XP_047295588.1:p.Glu3Gly, XP_047295593.1:p.Glu3Gly, XP_047295592.1:p.Glu3Gly, XP_047295584.1:p.Glu3Gly, XP_047295591.1:p.Glu3Gly, XP_047295594.1:p.Glu3Gly, XP_047295589.1:p.Glu3Gly, XP_047295576.1:p.Glu39Gly, XP_047295590.1:p.Glu3Gly, XP_047295574.1:p.Glu39Gly, XP_047295578.1:p.Glu39Gly, XP_047295577.1:p.Glu39Gly, XP_047295595.1:p.Glu3Gly, XP_047295596.1:p.Glu3Gly, XP_047295598.1:p.Glu3Gly, XP_047295572.1:p.Glu39Gly, NP_001309065.1:p.Glu39Gly, XP_047295599.1:p.Glu39Gly, XP_047295602.1:p.Glu39Gly, XP_047295600.1:p.Glu39Gly, XP_047295601.1:p.Glu39Gly

                                    18.

                                    rs1351505374 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C,G [Show Flanks]
                                      Chromosome:
                                      19:53073456 (GRCh38)
                                      19:53576709 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:53073455:T:A,NC_000019.10:53073455:T:C,NC_000019.10:53073455:T:G
                                      Gene:
                                      ZNF160 (Varview)
                                      Functional Consequence:
                                      missense_variant,intron_variant,stop_gained,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      A=0.000009/2 (GnomAD_exomes)
                                      A=0.000011/3 (TOPMED)
                                      G=0.004367/8 (Korea1K)
                                      HGVS:
                                      NC_000019.10:g.53073456T>A, NC_000019.10:g.53073456T>C, NC_000019.10:g.53073456T>G, NC_000019.9:g.53576709T>A, NC_000019.9:g.53576709T>C, NC_000019.9:g.53576709T>G, XM_017027448.3:c.325A>T, XM_017027448.3:c.325A>G, XM_017027448.3:c.325A>C, XM_017027448.2:c.325A>T, XM_017027448.2:c.325A>G, XM_017027448.2:c.325A>C, XM_017027448.1:c.325A>T, XM_017027448.1:c.325A>G, XM_017027448.1:c.325A>C, XM_017027447.3:c.382A>T, XM_017027447.3:c.382A>G, XM_017027447.3:c.382A>C, XM_017027447.2:c.382A>T, XM_017027447.2:c.382A>G, XM_017027447.2:c.382A>C, XM_017027447.1:c.382A>T, XM_017027447.1:c.382A>G, XM_017027447.1:c.382A>C, NM_001322126.2:c.325A>T, NM_001322126.2:c.325A>G, NM_001322126.2:c.325A>C, NM_001322126.1:c.325A>T, NM_001322126.1:c.325A>G, NM_001322126.1:c.325A>C, NM_001322125.2:c.325A>T, NM_001322125.2:c.325A>G, NM_001322125.2:c.325A>C, NM_001322125.1:c.325A>T, NM_001322125.1:c.325A>G, NM_001322125.1:c.325A>C, XM_047439643.1:c.325A>T, XM_047439643.1:c.325A>G, XM_047439643.1:c.325A>C, XM_047439646.1:c.325A>T, XM_047439646.1:c.325A>G, XM_047439646.1:c.325A>C, XM_047439644.1:c.325A>T, XM_047439644.1:c.325A>G, XM_047439644.1:c.325A>C, XM_047439645.1:c.325A>T, XM_047439645.1:c.325A>G, XM_047439645.1:c.325A>C, XP_016882937.1:p.Lys109Ter, XP_016882937.1:p.Lys109Glu, XP_016882937.1:p.Lys109Gln, XP_016882936.1:p.Lys128Ter, XP_016882936.1:p.Lys128Glu, XP_016882936.1:p.Lys128Gln, NP_001309055.1:p.Lys109Ter, NP_001309055.1:p.Lys109Glu, NP_001309055.1:p.Lys109Gln, NP_001309054.1:p.Lys109Ter, NP_001309054.1:p.Lys109Glu, NP_001309054.1:p.Lys109Gln, XP_047295599.1:p.Lys109Ter, XP_047295599.1:p.Lys109Glu, XP_047295599.1:p.Lys109Gln, XP_047295602.1:p.Lys109Ter, XP_047295602.1:p.Lys109Glu, XP_047295602.1:p.Lys109Gln, XP_047295600.1:p.Lys109Ter, XP_047295600.1:p.Lys109Glu, XP_047295600.1:p.Lys109Gln, XP_047295601.1:p.Lys109Ter, XP_047295601.1:p.Lys109Glu, XP_047295601.1:p.Lys109Gln

                                      19.

                                      rs1340604883 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        19:53074219 (GRCh38)
                                        19:53577472 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:53074218:T:C
                                        Gene:
                                        ZNF160 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.00002/5 (GnomAD_exomes)
                                        C=0.001369/4 (KOREAN)
                                        HGVS:
                                        NC_000019.10:g.53074219T>C, NC_000019.9:g.53577472T>C, NM_033288.4:c.192A>G, NM_033288.3:c.192A>G, NM_198893.3:c.192A>G, NM_198893.2:c.192A>G, XM_017027448.3:c.192A>G, XM_017027448.2:c.192A>G, XM_017027448.1:c.192A>G, XM_017027447.3:c.249A>G, XM_017027447.2:c.249A>G, XM_017027447.1:c.249A>G, NM_001322130.2:c.192A>G, NM_001322130.1:c.192A>G, NM_001322139.2:c.84A>G, NM_001322139.1:c.84A>G, NM_001322131.2:c.192A>G, NM_001322131.1:c.192A>G, NM_001322129.2:c.192A>G, NM_001322129.1:c.192A>G, NM_001322137.2:c.84A>G, NM_001322137.1:c.84A>G, NM_001322134.2:c.192A>G, NM_001322134.1:c.192A>G, NM_001322133.2:c.192A>G, NM_001322133.1:c.192A>G, NM_001322128.2:c.192A>G, NM_001322128.1:c.192A>G, NM_001102603.2:c.192A>G, NM_001102603.1:c.192A>G, NM_001322132.2:c.192A>G, NM_001322132.1:c.192A>G, NM_001322138.2:c.84A>G, NM_001322138.1:c.84A>G, NM_001322135.2:c.192A>G, NM_001322135.1:c.192A>G, NM_001322126.2:c.192A>G, NM_001322126.1:c.192A>G, NM_001322125.2:c.192A>G, NM_001322125.1:c.192A>G, XM_047439624.1:c.249A>G, XM_047439617.1:c.249A>G, XM_047439619.1:c.192A>G, XM_047439623.1:c.192A>G, XM_047439627.1:c.84A>G, XM_047439641.1:c.84A>G, XM_047439626.1:c.84A>G, XM_047439625.1:c.84A>G, XM_047439630.1:c.84A>G, XM_047439629.1:c.84A>G, XM_047439631.1:c.84A>G, XM_047439632.1:c.84A>G, XM_047439637.1:c.84A>G, XM_047439636.1:c.84A>G, XM_047439628.1:c.84A>G, XM_047439635.1:c.84A>G, XM_047439638.1:c.84A>G, XM_047439633.1:c.84A>G, XM_047439620.1:c.192A>G, XM_047439634.1:c.84A>G, XM_047439618.1:c.192A>G, XM_047439622.1:c.192A>G, XM_047439621.1:c.192A>G, XM_047439639.1:c.84A>G, XM_047439640.1:c.84A>G, XM_047439642.1:c.84A>G, XM_047439616.1:c.192A>G, NM_001322136.1:c.192A>G, XM_047439643.1:c.192A>G, XM_047439646.1:c.192A>G, XM_047439644.1:c.192A>G, XM_047439645.1:c.192A>G

                                        20.

                                        rs1339939488 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          19:53073376 (GRCh38)
                                          19:53576629 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:53073375:G:A
                                          Gene:
                                          ZNF160 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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