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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490537069 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    3:49861994 (GRCh38)
    3:49899427 (GRCh37)
    Canonical SPDI:
    NC_000003.12:49861993:G:A
    Gene:
    CAMKV (Varview)
    Functional Consequence:
    intron_variant
    HGVS:
    2.

    rs1490438524 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:49871941 (GRCh38)
      3:49909374 (GRCh37)
      Canonical SPDI:
      NC_000003.12:49871940:T:C
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1490438106 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        3:49869581 (GRCh38)
        3:49907014 (GRCh37)
        Canonical SPDI:
        NC_000003.12:49869580:G:C
        Gene:
        CAMKV (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489946681 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:49869927 (GRCh38)
          3:49907360 (GRCh37)
          Canonical SPDI:
          NC_000003.12:49869926:G:A
          Gene:
          CAMKV (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1489913154 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            3:49868994 (GRCh38)
            3:49906427 (GRCh37)
            Canonical SPDI:
            NC_000003.12:49868993:G:T
            Gene:
            CAMKV (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1489808010 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->TTGA [Show Flanks]
              Chromosome:
              3:49866028 (GRCh38)
              3:49903462 (GRCh37)
              Canonical SPDI:
              NC_000003.12:49866028::TTGA
              Gene:
              CAMKV (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTGA=0./0 (ALFA)
              TTGA=0.000011/3 (TOPMED)
              TTGA=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1489792870 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:49860135 (GRCh38)
                3:49897568 (GRCh37)
                Canonical SPDI:
                NC_000003.12:49860134:G:A
                Gene:
                CAMKV (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489779453 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  3:49860167 (GRCh38)
                  3:49897600 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:49860166:T:C
                  Gene:
                  CAMKV (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489441591 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    3:49858784 (GRCh38)
                    3:49896217 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:49858783:C:A
                    Gene:
                    CAMKV (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1489224709 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:49863428 (GRCh38)
                      3:49900861 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:49863427:C:T
                      Gene:
                      CAMKV (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1488751093 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        3:49868975 (GRCh38)
                        3:49906408 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:49868974:A:C,NC_000003.12:49868974:A:G
                        Gene:
                        CAMKV (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        G=0.000035/1 (TOMMO)
                        HGVS:
                        12.

                        rs1488693401 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:49858485 (GRCh38)
                          3:49895918 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:49858484:G:A
                          Gene:
                          TRAIP (Varview), CAMKV (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000014/2 (GnomAD)
                          A=0.00003/8 (TOPMED)
                          HGVS:
                          13.

                          rs1488098613 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            3:49871671 (GRCh38)
                            3:49909104 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:49871670:G:C
                            Gene:
                            CAMKV (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1487991002 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:49858110 (GRCh38)
                              3:49895543 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:49858109:C:T
                              Gene:
                              TRAIP (Varview), CAMKV (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487661609 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                3:49864385 (GRCh38)
                                3:49901818 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:49864384:G:C
                                Gene:
                                CAMKV (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1487506980 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  3:49868037 (GRCh38)
                                  3:49905470 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:49868036:G:T
                                  Gene:
                                  CAMKV (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1487333966 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:49863775 (GRCh38)
                                    3:49901208 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:49863774:C:T
                                    Gene:
                                    CAMKV (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487305798 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      3:49857755 (GRCh38)
                                      3:49895188 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:49857754:C:A,NC_000003.12:49857754:C:T
                                      Gene:
                                      TRAIP (Varview), CAMKV (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1487215480 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        3:49871584 (GRCh38)
                                        3:49909017 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:49871583:G:A
                                        Gene:
                                        CAMKV (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486713562 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          3:49863650 (GRCh38)
                                          3:49901083 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:49863649:C:A
                                          Gene:
                                          CAMKV (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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