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Items: 1 to 20 of 198

1.

rs1489658070 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    16:15380999 (GRCh38)
    16:15474856 (GRCh37)
    Canonical SPDI:
    NC_000016.10:15380998:G:T
    Gene:
    NPIPA5 (Varview), LOC105371103 (Varview)
    Functional Consequence:
    500B_downstream_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
    Validated:
    by cluster
    HGVS:
    NC_000016.10:g.15380999G>T, NC_000016.9:g.15474856G>T, NG_054723.1:g.5480C>A, NT_187607.1:g.1038950G>T, XR_932754.4:n.494C>A, XR_932754.3:n.308C>A, XR_932754.2:n.309C>A, XR_932754.1:n.802C>A, XM_011522336.4:c.49C>A, XM_011522336.3:c.49C>A, XM_011522336.2:c.49C>A, XM_011522336.1:c.49C>A, XM_011522329.4:c.49C>A, XM_011522329.3:c.49C>A, XM_011522329.2:c.49C>A, XM_011522329.1:c.49C>A, XM_024450132.2:c.49C>A, XM_024450132.1:c.49C>A, NM_001395485.2:c.49C>A, NM_001395485.1:c.49C>A, NM_001395486.2:c.49C>A, NM_001395486.1:c.49C>A, XM_047433465.1:c.49C>A, XM_047433461.1:c.49C>A, XM_047433463.1:c.49C>A, XM_047433462.1:c.49C>A, XP_011520638.1:p.Gln17Lys, XP_011520631.1:p.Gln17Lys, XP_024305900.1:p.Gln17Lys, XP_047289421.1:p.Gln17Lys, XP_047289417.1:p.Gln17Lys, XP_047289419.1:p.Gln17Lys, XP_047289418.1:p.Gln17Lys

    2.

    rs1487076341 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      16:15378156 (GRCh38)
      16:15472013 (GRCh37)
      Canonical SPDI:
      NC_000016.10:15378155:A:G
      Gene:
      NPIPA5 (Varview), LOC105371103 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:

      3.

      rs1485578973 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        16:15380933 (GRCh38)
        16:15474790 (GRCh37)
        Canonical SPDI:
        NC_000016.10:15380932:T:G
        Gene:
        NPIPA5 (Varview), LOC105371103 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        G=0.000007/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1480577807 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          16:15370067 (GRCh38)
          16:15463924 (GRCh37)
          Canonical SPDI:
          NC_000016.10:15370066:G:A
          Gene:
          NPIPA5 (Varview), LOC105371103 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000084/1 (ALFA)
          A=0.000017/1 (GnomAD_exomes)
          A=0.000017/2 (GnomAD)
          HGVS:
          NC_000016.10:g.15370067G>A, NC_000016.9:g.15463924G>A, NG_054723.1:g.16412C>T, NM_001277325.2:c.245C>T, NM_001277325.1:c.245C>T, NM_001351200.1:c.245C>T, NT_187607.1:g.1028012G>A, XR_932754.4:n.834C>T, XR_932754.3:n.648C>T, XR_932754.2:n.649C>T, XR_932754.1:n.1142C>T, XM_011522336.4:c.389C>T, XM_011522336.3:c.389C>T, XM_011522336.2:c.389C>T, XM_011522336.1:c.389C>T, XM_011522329.4:c.389C>T, XM_011522329.3:c.389C>T, XM_011522329.2:c.389C>T, XM_011522329.1:c.389C>T, XM_024450132.2:c.302C>T, XM_024450132.1:c.302C>T, XM_047433465.1:c.389C>T, XM_047433467.1:c.245C>T, XM_047433460.1:c.326C>T, XM_047433461.1:c.302C>T, XM_047433462.1:c.302C>T, XM_011522337.1:c.257C>T, XM_047433463.1:c.389C>T, XM_047433464.1:c.257C>T, NP_001264254.1:p.Thr82Met, NP_001338129.1:p.Thr82Met, XP_011520638.1:p.Thr130Met, XP_011520631.1:p.Thr130Met, XP_024305900.1:p.Thr101Met, XP_047289421.1:p.Thr130Met, XP_047289423.1:p.Thr82Met, XP_047289416.1:p.Thr109Met, XP_047289417.1:p.Thr101Met, XP_047289418.1:p.Thr101Met, XP_011520639.1:p.Thr86Met, XP_047289419.1:p.Thr130Met, XP_047289420.1:p.Thr86Met

          5.

          rs1477631795 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            16:15366736 (GRCh38)
            16:15460593 (GRCh37)
            Canonical SPDI:
            NC_000016.10:15366735:T:C
            Gene:
            NPIPA5 (Varview), LOC105371103 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1476056966 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              16:15369723 (GRCh38)
              16:15463580 (GRCh37)
              Canonical SPDI:
              NC_000016.10:15369722:G:A,NC_000016.10:15369722:G:C
              Gene:
              NPIPA5 (Varview), LOC105371103 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000016.10:g.15369723G>A, NC_000016.10:g.15369723G>C, NC_000016.9:g.15463580G>A, NC_000016.9:g.15463580G>C, NG_054723.1:g.16756C>T, NG_054723.1:g.16756C>G, NM_001277325.2:c.426C>T, NM_001277325.2:c.426C>G, NM_001277325.1:c.426C>T, NM_001277325.1:c.426C>G, NM_001351200.1:c.426C>T, NM_001351200.1:c.426C>G, NT_187607.1:g.1027668G>A, NT_187607.1:g.1027668G>C, XR_932754.4:n.1015C>T, XR_932754.4:n.1015C>G, XR_932754.3:n.829C>T, XR_932754.3:n.829C>G, XR_932754.2:n.830C>T, XR_932754.2:n.830C>G, XR_932754.1:n.1323C>T, XR_932754.1:n.1323C>G, XM_011522336.4:c.570C>T, XM_011522336.4:c.570C>G, XM_011522336.3:c.570C>T, XM_011522336.3:c.570C>G, XM_011522336.2:c.570C>T, XM_011522336.2:c.570C>G, XM_011522336.1:c.570C>T, XM_011522336.1:c.570C>G, XM_011522329.4:c.570C>T, XM_011522329.4:c.570C>G, XM_011522329.3:c.570C>T, XM_011522329.3:c.570C>G, XM_011522329.2:c.570C>T, XM_011522329.2:c.570C>G, XM_011522329.1:c.570C>T, XM_011522329.1:c.570C>G, XM_024450132.2:c.483C>T, XM_024450132.2:c.483C>G, XM_024450132.1:c.483C>T, XM_024450132.1:c.483C>G, XM_047433465.1:c.570C>T, XM_047433465.1:c.570C>G, XM_047433467.1:c.426C>T, XM_047433467.1:c.426C>G, XM_047433460.1:c.507C>T, XM_047433460.1:c.507C>G, XM_047433461.1:c.483C>T, XM_047433461.1:c.483C>G, XM_047433462.1:c.483C>T, XM_047433462.1:c.483C>G, XM_011522337.1:c.438C>T, XM_011522337.1:c.438C>G, XM_047433463.1:c.570C>T, XM_047433463.1:c.570C>G, XM_047433464.1:c.438C>T, XM_047433464.1:c.438C>G

              7.

              rs1474304448 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                16:15378139 (GRCh38)
                16:15471996 (GRCh37)
                Canonical SPDI:
                NC_000016.10:15378138:T:G
                Gene:
                NPIPA5 (Varview), LOC105371103 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1474127365 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  16:15369796 (GRCh38)
                  16:15463653 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:15369795:C:G,NC_000016.10:15369795:C:T
                  Gene:
                  NPIPA5 (Varview), LOC105371103 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.00001/1 (GnomAD)
                  G=0.000022/1 (GnomAD_exomes)
                  G=0.000102/27 (TOPMED)
                  HGVS:
                  NC_000016.10:g.15369796C>G, NC_000016.10:g.15369796C>T, NC_000016.9:g.15463653C>G, NC_000016.9:g.15463653C>T, NG_054723.1:g.16683G>C, NG_054723.1:g.16683G>A, NM_001277325.2:c.353G>C, NM_001277325.2:c.353G>A, NM_001277325.1:c.353G>C, NM_001277325.1:c.353G>A, NM_001351200.1:c.353G>C, NM_001351200.1:c.353G>A, NT_187607.1:g.1027741C>G, NT_187607.1:g.1027741C>T, XR_932754.4:n.942G>C, XR_932754.4:n.942G>A, XR_932754.3:n.756G>C, XR_932754.3:n.756G>A, XR_932754.2:n.757G>C, XR_932754.2:n.757G>A, XR_932754.1:n.1250G>C, XR_932754.1:n.1250G>A, XM_011522336.4:c.497G>C, XM_011522336.4:c.497G>A, XM_011522336.3:c.497G>C, XM_011522336.3:c.497G>A, XM_011522336.2:c.497G>C, XM_011522336.2:c.497G>A, XM_011522336.1:c.497G>C, XM_011522336.1:c.497G>A, XM_011522329.4:c.497G>C, XM_011522329.4:c.497G>A, XM_011522329.3:c.497G>C, XM_011522329.3:c.497G>A, XM_011522329.2:c.497G>C, XM_011522329.2:c.497G>A, XM_011522329.1:c.497G>C, XM_011522329.1:c.497G>A, XM_024450132.2:c.410G>C, XM_024450132.2:c.410G>A, XM_024450132.1:c.410G>C, XM_024450132.1:c.410G>A, XM_047433465.1:c.497G>C, XM_047433465.1:c.497G>A, XM_047433467.1:c.353G>C, XM_047433467.1:c.353G>A, XM_047433460.1:c.434G>C, XM_047433460.1:c.434G>A, XM_047433461.1:c.410G>C, XM_047433461.1:c.410G>A, XM_047433462.1:c.410G>C, XM_047433462.1:c.410G>A, XM_011522337.1:c.365G>C, XM_011522337.1:c.365G>A, XM_047433463.1:c.497G>C, XM_047433463.1:c.497G>A, XM_047433464.1:c.365G>C, XM_047433464.1:c.365G>A, NP_001264254.1:p.Arg118Pro, NP_001264254.1:p.Arg118Gln, NP_001338129.1:p.Arg118Pro, NP_001338129.1:p.Arg118Gln, XP_011520638.1:p.Arg166Pro, XP_011520638.1:p.Arg166Gln, XP_011520631.1:p.Arg166Pro, XP_011520631.1:p.Arg166Gln, XP_024305900.1:p.Arg137Pro, XP_024305900.1:p.Arg137Gln, XP_047289421.1:p.Arg166Pro, XP_047289421.1:p.Arg166Gln, XP_047289423.1:p.Arg118Pro, XP_047289423.1:p.Arg118Gln, XP_047289416.1:p.Arg145Pro, XP_047289416.1:p.Arg145Gln, XP_047289417.1:p.Arg137Pro, XP_047289417.1:p.Arg137Gln, XP_047289418.1:p.Arg137Pro, XP_047289418.1:p.Arg137Gln, XP_011520639.1:p.Arg122Pro, XP_011520639.1:p.Arg122Gln, XP_047289419.1:p.Arg166Pro, XP_047289419.1:p.Arg166Gln, XP_047289420.1:p.Arg122Pro, XP_047289420.1:p.Arg122Gln

                  9.

                  rs1471147920 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    16:15365460 (GRCh38)
                    16:15459317 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:15365459:G:A,NC_000016.10:15365459:G:T
                    Gene:
                    NPIPA5 (Varview), LOC105371103 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.00008/3 (GnomAD)
                    A=0.00102/2 (GnomAD_exomes)
                    HGVS:
                    NC_000016.10:g.15365460G>A, NC_000016.10:g.15365460G>T, NC_000016.9:g.15459317G>A, NC_000016.9:g.15459317G>T, NG_054723.1:g.21019C>T, NG_054723.1:g.21019C>A, NM_001277325.2:c.611C>T, NM_001277325.2:c.611C>A, NM_001277325.1:c.611C>T, NM_001277325.1:c.611C>A, NM_001351200.1:c.611C>T, NM_001351200.1:c.611C>A, NT_187607.1:g.1023406G>A, NT_187607.1:g.1023406G>T, XR_932754.4:n.1200C>T, XR_932754.4:n.1200C>A, XR_932754.3:n.1014C>T, XR_932754.3:n.1014C>A, XR_932754.2:n.1015C>T, XR_932754.2:n.1015C>A, XR_932754.1:n.1508C>T, XR_932754.1:n.1508C>A, XM_011522336.4:c.755C>T, XM_011522336.4:c.755C>A, XM_011522336.3:c.755C>T, XM_011522336.3:c.755C>A, XM_011522336.2:c.755C>T, XM_011522336.2:c.755C>A, XM_011522336.1:c.755C>T, XM_011522336.1:c.755C>A, XM_011522329.4:c.755C>T, XM_011522329.4:c.755C>A, XM_011522329.3:c.755C>T, XM_011522329.3:c.755C>A, XM_011522329.2:c.755C>T, XM_011522329.2:c.755C>A, XM_011522329.1:c.755C>T, XM_011522329.1:c.755C>A, XM_024450132.2:c.668C>T, XM_024450132.2:c.668C>A, XM_024450132.1:c.668C>T, XM_024450132.1:c.668C>A, XM_047433465.1:c.755C>T, XM_047433465.1:c.755C>A, XM_047433467.1:c.611C>T, XM_047433467.1:c.611C>A, XM_047433460.1:c.692C>T, XM_047433460.1:c.692C>A, XM_047433461.1:c.668C>T, XM_047433461.1:c.668C>A, XM_047433462.1:c.668C>T, XM_047433462.1:c.668C>A, XM_011522337.1:c.515C>T, XM_011522337.1:c.515C>A, XM_047433463.1:c.755C>T, XM_047433463.1:c.755C>A, XM_047433464.1:c.623C>T, XM_047433464.1:c.623C>A, NP_001264254.1:p.Thr204Ile, NP_001264254.1:p.Thr204Asn, NP_001338129.1:p.Thr204Ile, NP_001338129.1:p.Thr204Asn, XP_011520638.1:p.Thr252Ile, XP_011520638.1:p.Thr252Asn, XP_011520631.1:p.Thr252Ile, XP_011520631.1:p.Thr252Asn, XP_024305900.1:p.Thr223Ile, XP_024305900.1:p.Thr223Asn, XP_047289421.1:p.Thr252Ile, XP_047289421.1:p.Thr252Asn, XP_047289423.1:p.Thr204Ile, XP_047289423.1:p.Thr204Asn, XP_047289416.1:p.Thr231Ile, XP_047289416.1:p.Thr231Asn, XP_047289417.1:p.Thr223Ile, XP_047289417.1:p.Thr223Asn, XP_047289418.1:p.Thr223Ile, XP_047289418.1:p.Thr223Asn, XP_011520639.1:p.Thr172Ile, XP_011520639.1:p.Thr172Asn, XP_047289419.1:p.Thr252Ile, XP_047289419.1:p.Thr252Asn, XP_047289420.1:p.Thr208Ile, XP_047289420.1:p.Thr208Asn

                    10.

                    rs1469508949 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:15370088 (GRCh38)
                      16:15463945 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:15370087:T:C
                      Gene:
                      NPIPA5 (Varview), LOC105371103 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.00005/3 (GnomAD_exomes)
                      HGVS:
                      NC_000016.10:g.15370088T>C, NC_000016.9:g.15463945T>C, NG_054723.1:g.16391A>G, NM_001277325.2:c.224A>G, NM_001277325.1:c.224A>G, NM_001351200.1:c.224A>G, NT_187607.1:g.1028033T>C, XR_932754.4:n.813A>G, XR_932754.3:n.627A>G, XR_932754.2:n.628A>G, XR_932754.1:n.1121A>G, XM_011522336.4:c.368A>G, XM_011522336.3:c.368A>G, XM_011522336.2:c.368A>G, XM_011522336.1:c.368A>G, XM_011522329.4:c.368A>G, XM_011522329.3:c.368A>G, XM_011522329.2:c.368A>G, XM_011522329.1:c.368A>G, XM_024450132.2:c.281A>G, XM_024450132.1:c.281A>G, XM_047433465.1:c.368A>G, XM_047433467.1:c.224A>G, XM_047433460.1:c.305A>G, XM_047433461.1:c.281A>G, XM_047433462.1:c.281A>G, XM_011522337.1:c.236A>G, XM_047433463.1:c.368A>G, XM_047433464.1:c.236A>G, NP_001264254.1:p.Gln75Arg, NP_001338129.1:p.Gln75Arg, XP_011520638.1:p.Gln123Arg, XP_011520631.1:p.Gln123Arg, XP_024305900.1:p.Gln94Arg, XP_047289421.1:p.Gln123Arg, XP_047289423.1:p.Gln75Arg, XP_047289416.1:p.Gln102Arg, XP_047289417.1:p.Gln94Arg, XP_047289418.1:p.Gln94Arg, XP_011520639.1:p.Gln79Arg, XP_047289419.1:p.Gln123Arg, XP_047289420.1:p.Gln79Arg

                      11.

                      rs1469299524 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        16:15370039 (GRCh38)
                        16:15463896 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:15370038:G:C
                        Gene:
                        NPIPA5 (Varview), LOC105371103 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1462854155 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:15366655 (GRCh38)
                          16:15460512 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:15366654:G:A
                          Gene:
                          NPIPA5 (Varview), LOC105371103 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1462648726 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            16:15365464 (GRCh38)
                            16:15459321 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:15365463:T:C
                            Gene:
                            NPIPA5 (Varview), LOC105371103 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.00003/1 (GnomAD)
                            HGVS:
                            NC_000016.10:g.15365464T>C, NC_000016.9:g.15459321T>C, NG_054723.1:g.21015A>G, NM_001277325.2:c.607A>G, NM_001277325.1:c.607A>G, NM_001351200.1:c.607A>G, NT_187607.1:g.1023410T>C, XR_932754.4:n.1196A>G, XR_932754.3:n.1010A>G, XR_932754.2:n.1011A>G, XR_932754.1:n.1504A>G, XM_011522336.4:c.751A>G, XM_011522336.3:c.751A>G, XM_011522336.2:c.751A>G, XM_011522336.1:c.751A>G, XM_011522329.4:c.751A>G, XM_011522329.3:c.751A>G, XM_011522329.2:c.751A>G, XM_011522329.1:c.751A>G, XM_024450132.2:c.664A>G, XM_024450132.1:c.664A>G, XM_047433465.1:c.751A>G, XM_047433467.1:c.607A>G, XM_047433460.1:c.688A>G, XM_047433461.1:c.664A>G, XM_047433462.1:c.664A>G, XM_011522337.1:c.511A>G, XM_047433463.1:c.751A>G, XM_047433464.1:c.619A>G, NP_001264254.1:p.Ile203Val, NP_001338129.1:p.Ile203Val, XP_011520638.1:p.Ile251Val, XP_011520631.1:p.Ile251Val, XP_024305900.1:p.Ile222Val, XP_047289421.1:p.Ile251Val, XP_047289423.1:p.Ile203Val, XP_047289416.1:p.Ile230Val, XP_047289417.1:p.Ile222Val, XP_047289418.1:p.Ile222Val, XP_011520639.1:p.Ile171Val, XP_047289419.1:p.Ile251Val, XP_047289420.1:p.Ile207Val

                            14.

                            rs1459869321 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              16:15373725 (GRCh38)
                              16:15467582 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:15373724:C:G
                              Gene:
                              NPIPA5 (Varview), LOC105371103 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.0586/951 (ALFA)
                              G=0.02884/757 (GnomAD)
                              G=0.03493/416 (GnomAD_exomes)
                              C=0.09091/2 (SGDP_PRJ)
                              G=0.14407/17 (Korea1K)
                              G=0.21885/3521 (TOMMO)
                              G=0.28457/749 (KOREAN)
                              HGVS:
                              NC_000016.10:g.15373725C>G, NC_000016.9:g.15467582C>G, NG_054723.1:g.12754G>C, NM_001277325.2:c.182G>C, NM_001277325.1:c.182G>C, NM_001351200.1:c.182G>C, NT_187607.1:g.1031673C>G, XR_932754.4:n.771G>C, XR_932754.3:n.585G>C, XR_932754.2:n.586G>C, XR_932754.1:n.1079G>C, XM_011522336.4:c.326G>C, XM_011522336.3:c.326G>C, XM_011522336.2:c.326G>C, XM_011522336.1:c.326G>C, XM_011522329.4:c.326G>C, XM_011522329.3:c.326G>C, XM_011522329.2:c.326G>C, XM_011522329.1:c.326G>C, XM_024450132.2:c.239G>C, XM_024450132.1:c.239G>C, NM_001395485.2:c.239G>C, NM_001395485.1:c.239G>C, NM_001395486.2:c.239G>C, NM_001395486.1:c.239G>C, XM_047433465.1:c.326G>C, XM_047433467.1:c.182G>C, XM_047433460.1:c.263G>C, XM_047433461.1:c.239G>C, XM_047433462.1:c.239G>C, XM_011522337.1:c.194G>C, XM_047433463.1:c.326G>C, XM_047433464.1:c.194G>C, NP_001264254.1:p.Ser61Thr, NP_001338129.1:p.Ser61Thr, XP_011520638.1:p.Ser109Thr, XP_011520631.1:p.Ser109Thr, XP_024305900.1:p.Ser80Thr, XP_047289421.1:p.Ser109Thr, XP_047289423.1:p.Ser61Thr, XP_047289416.1:p.Ser88Thr, XP_047289417.1:p.Ser80Thr, XP_047289418.1:p.Ser80Thr, XP_011520639.1:p.Ser65Thr, XP_047289419.1:p.Ser109Thr, XP_047289420.1:p.Ser65Thr

                              15.

                              rs1455767230 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                16:15366719 (GRCh38)
                                16:15460576 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:15366718:T:G
                                Gene:
                                NPIPA5 (Varview), LOC105371103 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000016.10:g.15366719T>G, NC_000016.9:g.15460576T>G, NG_054723.1:g.19760A>C, NM_001277325.2:c.479A>C, NM_001277325.1:c.479A>C, NM_001351200.1:c.479A>C, NT_187607.1:g.1024665T>G, XR_932754.4:n.1068A>C, XR_932754.3:n.882A>C, XR_932754.2:n.883A>C, XR_932754.1:n.1376A>C, XM_011522336.4:c.623A>C, XM_011522336.3:c.623A>C, XM_011522336.2:c.623A>C, XM_011522336.1:c.623A>C, XM_011522329.4:c.623A>C, XM_011522329.3:c.623A>C, XM_011522329.2:c.623A>C, XM_011522329.1:c.623A>C, XM_024450132.2:c.536A>C, XM_024450132.1:c.536A>C, XM_047433465.1:c.623A>C, XM_047433467.1:c.479A>C, XM_047433460.1:c.560A>C, XM_047433461.1:c.536A>C, XM_047433462.1:c.536A>C, XM_047433463.1:c.623A>C, XM_047433464.1:c.491A>C, NP_001264254.1:p.Lys160Thr, NP_001338129.1:p.Lys160Thr, XP_011520638.1:p.Lys208Thr, XP_011520631.1:p.Lys208Thr, XP_024305900.1:p.Lys179Thr, XP_047289421.1:p.Lys208Thr, XP_047289423.1:p.Lys160Thr, XP_047289416.1:p.Lys187Thr, XP_047289417.1:p.Lys179Thr, XP_047289418.1:p.Lys179Thr, XP_047289419.1:p.Lys208Thr, XP_047289420.1:p.Lys164Thr

                                16.

                                rs1453812476 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  16:15380964 (GRCh38)
                                  16:15474821 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:15380963:T:C
                                  Gene:
                                  NPIPA5 (Varview), LOC105371103 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant
                                  HGVS:

                                  17.

                                  rs1453187430 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    16:15369827 (GRCh38)
                                    16:15463684 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:15369826:T:A
                                    Gene:
                                    NPIPA5 (Varview), LOC105371103 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.00032/5 (TOMMO)
                                    A=0.00069/2 (KOREAN)
                                    HGVS:
                                    NC_000016.10:g.15369827T>A, NC_000016.9:g.15463684T>A, NG_054723.1:g.16652A>T, NM_001277325.2:c.322A>T, NM_001277325.1:c.322A>T, NM_001351200.1:c.322A>T, NT_187607.1:g.1027772T>A, XR_932754.4:n.911A>T, XR_932754.3:n.725A>T, XR_932754.2:n.726A>T, XR_932754.1:n.1219A>T, XM_011522336.4:c.466A>T, XM_011522336.3:c.466A>T, XM_011522336.2:c.466A>T, XM_011522336.1:c.466A>T, XM_011522329.4:c.466A>T, XM_011522329.3:c.466A>T, XM_011522329.2:c.466A>T, XM_011522329.1:c.466A>T, XM_024450132.2:c.379A>T, XM_024450132.1:c.379A>T, XM_047433465.1:c.466A>T, XM_047433467.1:c.322A>T, XM_047433460.1:c.403A>T, XM_047433461.1:c.379A>T, XM_047433462.1:c.379A>T, XM_011522337.1:c.334A>T, XM_047433463.1:c.466A>T, XM_047433464.1:c.334A>T, NP_001264254.1:p.Thr108Ser, NP_001338129.1:p.Thr108Ser, XP_011520638.1:p.Thr156Ser, XP_011520631.1:p.Thr156Ser, XP_024305900.1:p.Thr127Ser, XP_047289421.1:p.Thr156Ser, XP_047289423.1:p.Thr108Ser, XP_047289416.1:p.Thr135Ser, XP_047289417.1:p.Thr127Ser, XP_047289418.1:p.Thr127Ser, XP_011520639.1:p.Thr112Ser, XP_047289419.1:p.Thr156Ser, XP_047289420.1:p.Thr112Ser

                                    18.

                                    rs1449112211 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      16:15378120 (GRCh38)
                                      16:15471977 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:15378119:C:A
                                      Gene:
                                      NPIPA5 (Varview), LOC105371103 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000015/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1448207604 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        16:15370052 (GRCh38)
                                        16:15463909 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:15370051:C:G
                                        Gene:
                                        NPIPA5 (Varview), LOC105371103 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000084/1 (ALFA)
                                        G=0.000019/1 (GnomAD_exomes)
                                        G=0.000034/4 (GnomAD)
                                        HGVS:
                                        NC_000016.10:g.15370052C>G, NC_000016.9:g.15463909C>G, NG_054723.1:g.16427G>C, NM_001277325.2:c.260G>C, NM_001277325.1:c.260G>C, NM_001351200.1:c.260G>C, NT_187607.1:g.1027997C>G, XR_932754.4:n.849G>C, XR_932754.3:n.663G>C, XR_932754.2:n.664G>C, XR_932754.1:n.1157G>C, XM_011522336.4:c.404G>C, XM_011522336.3:c.404G>C, XM_011522336.2:c.404G>C, XM_011522336.1:c.404G>C, XM_011522329.4:c.404G>C, XM_011522329.3:c.404G>C, XM_011522329.2:c.404G>C, XM_011522329.1:c.404G>C, XM_024450132.2:c.317G>C, XM_024450132.1:c.317G>C, XM_047433465.1:c.404G>C, XM_047433467.1:c.260G>C, XM_047433460.1:c.341G>C, XM_047433461.1:c.317G>C, XM_047433462.1:c.317G>C, XM_011522337.1:c.272G>C, XM_047433463.1:c.404G>C, XM_047433464.1:c.272G>C, NP_001264254.1:p.Arg87Thr, NP_001338129.1:p.Arg87Thr, XP_011520638.1:p.Arg135Thr, XP_011520631.1:p.Arg135Thr, XP_024305900.1:p.Arg106Thr, XP_047289421.1:p.Arg135Thr, XP_047289423.1:p.Arg87Thr, XP_047289416.1:p.Arg114Thr, XP_047289417.1:p.Arg106Thr, XP_047289418.1:p.Arg106Thr, XP_011520639.1:p.Arg91Thr, XP_047289419.1:p.Arg135Thr, XP_047289420.1:p.Arg91Thr

                                        20.

                                        rs1446637712 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:15369846 (GRCh38)
                                          16:15463703 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:15369845:A:G
                                          Gene:
                                          NPIPA5 (Varview), LOC105371103 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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