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1.

rs1491412434 has merged into rs9299384 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    9:104990336 (GRCh38)
    9:107752617 (GRCh37)
    Canonical SPDI:
    NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    CT70 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.2063/1033 (1000Genomes)
    HGVS:
    NC_000009.12:g.104990336_104990344del, NC_000009.12:g.104990338_104990344del, NC_000009.12:g.104990340_104990344del, NC_000009.12:g.104990341_104990344del, NC_000009.12:g.104990342_104990344del, NC_000009.12:g.104990343_104990344del, NC_000009.12:g.104990344del, NC_000009.12:g.104990344dup, NC_000009.12:g.104990343_104990344dup, NC_000009.12:g.104990342_104990344dup, NC_000009.12:g.104990341_104990344dup, NC_000009.12:g.104990340_104990344dup, NC_000009.12:g.104990339_104990344dup, NC_000009.12:g.104990338_104990344dup, NC_000009.12:g.104990337_104990344dup, NC_000009.12:g.104990336_104990344dup, NC_000009.12:g.104990335_104990344dup, NC_000009.12:g.104990331_104990344dup, NC_000009.12:g.104990330_104990344dup, NC_000009.12:g.104990329_104990344dup, NC_000009.12:g.104990328_104990344dup, NC_000009.12:g.104990327_104990344dup, NC_000009.12:g.104990344_104990345insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.107752617_107752625del, NC_000009.11:g.107752619_107752625del, NC_000009.11:g.107752621_107752625del, NC_000009.11:g.107752622_107752625del, NC_000009.11:g.107752623_107752625del, NC_000009.11:g.107752624_107752625del, NC_000009.11:g.107752625del, NC_000009.11:g.107752625dup, NC_000009.11:g.107752624_107752625dup, NC_000009.11:g.107752623_107752625dup, NC_000009.11:g.107752622_107752625dup, NC_000009.11:g.107752621_107752625dup, NC_000009.11:g.107752620_107752625dup, NC_000009.11:g.107752619_107752625dup, NC_000009.11:g.107752618_107752625dup, NC_000009.11:g.107752617_107752625dup, NC_000009.11:g.107752616_107752625dup, NC_000009.11:g.107752612_107752625dup, NC_000009.11:g.107752611_107752625dup, NC_000009.11:g.107752610_107752625dup, NC_000009.11:g.107752609_107752625dup, NC_000009.11:g.107752608_107752625dup, NC_000009.11:g.107752625_107752626insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    2.

    rs1491270711 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->GT
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1488867444 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        9:104991638 (GRCh38)
        9:107753919 (GRCh37)
        Canonical SPDI:
        NC_000009.12:104991637:T:C
        Gene:
        CT70 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000011/3 (TOPMED)
        C=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1488198739 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          9:104989649 (GRCh38)
          9:107751930 (GRCh37)
          Canonical SPDI:
          NC_000009.12:104989648:C:T
          Gene:
          CT70 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1486801630 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:104992737 (GRCh38)
            9:107755018 (GRCh37)
            Canonical SPDI:
            NC_000009.12:104992736:C:T
            Gene:
            CT70 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1485705736 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              9:104990718 (GRCh38)
              9:107752999 (GRCh37)
              Canonical SPDI:
              NC_000009.12:104990717:G:C
              Gene:
              CT70 (Varview)
              Functional Consequence:
              downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1485223078 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                9:104991386 (GRCh38)
                9:107753667 (GRCh37)
                Canonical SPDI:
                NC_000009.12:104991385:A:C
                Gene:
                CT70 (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:
                8.

                rs1485147350 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:104993790 (GRCh38)
                  9:107756071 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:104993789:C:T
                  Gene:
                  CT70 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1484053638 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    9:104991546 (GRCh38)
                    9:107753827 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:104991545:T:G
                    Gene:
                    CT70 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000011/3 (TOPMED)
                    G=0.000156/1 (1000Genomes)
                    G=0.000685/2 (KOREAN)
                    HGVS:
                    10.

                    rs1482742754 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:104993084 (GRCh38)
                      9:107755365 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:104993083:G:A
                      Gene:
                      CT70 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      HGVS:
                      12.

                      rs1482205543 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        9:104993523 (GRCh38)
                        9:107755804 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:104993522:C:T
                        Gene:
                        CT70 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        13.

                        rs1482092210 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          9:104992367 (GRCh38)
                          9:107754648 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:104992366:G:T
                          Gene:
                          CT70 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          14.

                          rs1481677152 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:104993322 (GRCh38)
                            9:107755603 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:104993321:G:A
                            Gene:
                            CT70 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            15.

                            rs1480388359 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GA>- [Show Flanks]
                              Chromosome:
                              9:104993511 (GRCh38)
                              9:107755792 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:104993509:AGA:A
                              Gene:
                              CT70 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              -=0.000029/4 (GnomAD)
                              -=0.00003/8 (TOPMED)
                              HGVS:
                              16.

                              rs1479830392 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                9:104990452 (GRCh38)
                                9:107752733 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:104990451:G:T
                                Gene:
                                CT70 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1479109663 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  9:104991141 (GRCh38)
                                  9:107753422 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:104991140:C:A
                                  Gene:
                                  CT70 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1478996250 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    9:104989456 (GRCh38)
                                    9:107751737 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:104989455:G:T
                                    Gene:
                                    CT70 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000021/3 (GnomAD)
                                    T=0.000049/13 (TOPMED)
                                    T=0.000212/4 (TOMMO)
                                    T=0.000684/2 (KOREAN)
                                    HGVS:
                                    19.

                                    rs1476828832 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,G [Show Flanks]
                                      Chromosome:
                                      9:104990473 (GRCh38)
                                      9:107752754 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:104990472:T:A,NC_000009.12:104990472:T:G
                                      Gene:
                                      CT70 (Varview)
                                      Functional Consequence:
                                      intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000094/1 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1476244631 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:104992948 (GRCh38)
                                        9:107755229 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:104992947:G:A
                                        Gene:
                                        CT70 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:

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