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Links from Gene

Items: 7

1.

rs1444749114 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    Y:25043964 (GRCh38)
    Y:27190111 (GRCh37)
    Canonical SPDI:
    NC_000024.10:25043963:G:A
    Gene:
    BPY2C (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    HGVS:
    2.

    rs1280192362 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      Y:25039658 (GRCh38)
      Y:27185805 (GRCh37)
      Canonical SPDI:
      NC_000024.10:25039657:C:T
      Gene:
      BPY2C (Varview)
      Functional Consequence:
      intron_variant
      HGVS:
      3.

      rs1214589876 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        Y:25043938 (GRCh38)
        Y:27190085 (GRCh37)
        Canonical SPDI:
        NC_000024.10:25043937:AA:
        Gene:
        BPY2C (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency
        MAF:
        -=0.0001/1 (GnomAD_exomes)
        HGVS:
        4.

        rs780059583 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          Y:25043903 (GRCh38)
          Y:27190050 (GRCh37)
          Canonical SPDI:
          NC_000024.10:25043902:A:C
          Gene:
          BPY2C (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.00381/6 (ALFA)
          A=0./0 (SGDP_PRJ)
          C=0.00463/48 (GnomAD_exomes)
          C=0.01342/137 (GnomAD)
          C=0.02614/16 (ExAC)
          HGVS:
          5.

          rs769842679 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            Y:25043902 (GRCh38)
            Y:27190049 (GRCh37)
            Canonical SPDI:
            NC_000024.10:25043901:T:G
            Gene:
            BPY2C (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency
            MAF:
            G=0./0 (ExAC)
            HGVS:
            6.

            rs368498086 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              Y:25043838 (GRCh38)
              Y:27189985 (GRCh37)
              Canonical SPDI:
              NC_000024.10:25043837:T:C
              Gene:
              BPY2C (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by cluster
              HGVS:
              7.

              rs56350733 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                Y:25043819 (GRCh38)
                Y:27189966 (GRCh37)
                Canonical SPDI:
                NC_000024.10:25043818:G:A
                Gene:
                BPY2C (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by cluster
                HGVS:

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