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Links from Protein

Items: 1 to 20 of 743

2.

rs1486866923 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    8:39744884 (GRCh38)
    8:39602403 (GRCh37)
    Canonical SPDI:
    NC_000008.11:39744883:T:C
    Gene:
    ADAM2 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    3.

    rs1486484687 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      8:39821063 (GRCh38)
      8:39678582 (GRCh37)
      Canonical SPDI:
      NC_000008.11:39821062:G:A
      Gene:
      ADAM2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000056/2 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      4.
      8.

      rs1479011461 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        8:39769401 (GRCh38)
        8:39626920 (GRCh37)
        Canonical SPDI:
        NC_000008.11:39769400:C:T
        Gene:
        ADAM2 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        9.
        10.

        rs1478705635 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          8:39838161 (GRCh38)
          8:39695680 (GRCh37)
          Canonical SPDI:
          NC_000008.11:39838160:T:C
          Gene:
          ADAM2 (Varview)
          Functional Consequence:
          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)
          C=0.000008/2 (GnomAD_exomes)
          HGVS:
          13.
          14.

          rs1472214554 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            8:39744881 (GRCh38)
            8:39602400 (GRCh37)
            Canonical SPDI:
            NC_000008.11:39744880:A:T
            Gene:
            ADAM2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000224/1 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000223/1 (Estonian)
            HGVS:
            16.

            rs1471200253 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              8:39787042 (GRCh38)
              8:39644561 (GRCh37)
              Canonical SPDI:
              NC_000008.11:39787041:A:T
              Gene:
              ADAM2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000047/1 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              18.

              rs1468795374 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                8:39749340 (GRCh38)
                8:39606859 (GRCh37)
                Canonical SPDI:
                NC_000008.11:39749339:T:G
                Gene:
                ADAM2 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                HGVS:
                19.

                rs1468716113 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  8:39749332 (GRCh38)
                  8:39606851 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:39749331:G:C
                  Gene:
                  ADAM2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  20.

                  rs1468285151 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    8:39821140 (GRCh38)
                    8:39678659 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:39821139:A:G
                    Gene:
                    ADAM2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    HGVS:

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