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Items: 1 to 20 of 8624

1.

rs1491566160 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TATATATATATAT [Show Flanks]
    Chromosome:
    19:3145337 (GRCh38)
    19:3145336 (GRCh37)
    Canonical SPDI:
    NC_000019.10:3145337:TATATATATATAT:TATATATATATATTATATATATATAT
    Gene:
    GNA15 (Varview), GNA15-DT (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TATATATATATATTATATATATATAT=0./0 (ALFA)
    TATATATATATAT=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491531954 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AC>- [Show Flanks]
      Chromosome:
      19:3134889 (GRCh38)
      19:3134887 (GRCh37)
      Canonical SPDI:
      NC_000019.10:3134887:CAC:C
      Gene:
      GNA15 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491511845 has merged into rs71179976 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        19:3145368 (GRCh38)
        19:3145366 (GRCh37)
        Canonical SPDI:
        NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3145359:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        GNA15 (Varview), GNA15-DT (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000019.10:g.3145368_3145372del, NC_000019.10:g.3145369_3145372del, NC_000019.10:g.3145370_3145372del, NC_000019.10:g.3145371_3145372del, NC_000019.10:g.3145372del, NC_000019.10:g.3145372dup, NC_000019.10:g.3145371_3145372dup, NC_000019.10:g.3145370_3145372dup, NC_000019.10:g.3145369_3145372dup, NC_000019.10:g.3145368_3145372dup, NC_000019.10:g.3145367_3145372dup, NC_000019.10:g.3145366_3145372dup, NC_000019.10:g.3145365_3145372dup, NC_000019.10:g.3145364_3145372dup, NC_000019.10:g.3145361_3145372dup, NC_000019.9:g.3145366_3145370del, NC_000019.9:g.3145367_3145370del, NC_000019.9:g.3145368_3145370del, NC_000019.9:g.3145369_3145370del, NC_000019.9:g.3145370del, NC_000019.9:g.3145370dup, NC_000019.9:g.3145369_3145370dup, NC_000019.9:g.3145368_3145370dup, NC_000019.9:g.3145367_3145370dup, NC_000019.9:g.3145366_3145370dup, NC_000019.9:g.3145365_3145370dup, NC_000019.9:g.3145364_3145370dup, NC_000019.9:g.3145363_3145370dup, NC_000019.9:g.3145362_3145370dup, NC_000019.9:g.3145359_3145370dup
        4.

        rs1491352979 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GC [Show Flanks]
          Chromosome:
          19:3156430 (GRCh38)
          19:3156429 (GRCh37)
          Canonical SPDI:
          NC_000019.10:3156430:GC:GCGC
          Gene:
          GNA15 (Varview), GNA15-DT (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GCGC=0./0 (ALFA)
          GC=0.000016/2 (GnomAD)
          GC=0.00003/8 (TOPMED)
          GC=0.000106/2 (TOMMO)
          HGVS:
          5.

          rs1491330051 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->CC [Show Flanks]
            Chromosome:
            19:3134885 (GRCh38)
            19:3134884 (GRCh37)
            Canonical SPDI:
            NC_000019.10:3134885::CC
            Gene:
            GNA15 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            CC=0./0 (ALFA)
            CC=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1491326694 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TG>- [Show Flanks]
              Chromosome:
              19:3156430 (GRCh38)
              19:3156428 (GRCh37)
              Canonical SPDI:
              NC_000019.10:3156429:TG:
              Gene:
              GNA15 (Varview), GNA15-DT (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000014/2 (GnomAD)
              -=0.002973/50 (TOMMO)
              HGVS:
              7.

              rs1491289568 has merged into rs35737557 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                19:3139612 (GRCh38)
                19:3139610 (GRCh37)
                Canonical SPDI:
                NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3139598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                GNA15 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAAAA=0./0 (ALFA)
                A=0.3061/1533 (1000Genomes)
                HGVS:
                8.

                rs1491197844 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  19:3139598 (GRCh38)
                  19:3139596 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:3139597:CA:
                  Gene:
                  GNA15 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00034/4 (ALFA)
                  HGVS:
                  9.

                  rs1491184908 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->CT [Show Flanks]
                    Chromosome:
                    19:3134888 (GRCh38)
                    19:3134887 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:3134888::CT
                    Gene:
                    GNA15 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    CT=0.000064/9 (GnomAD)
                    HGVS:
                    10.

                    rs1491181156 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TG>- [Show Flanks]
                      Chromosome:
                      19:3134886 (GRCh38)
                      19:3134884 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:3134884:GTG:G
                      Gene:
                      GNA15 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      -=0.000064/9 (GnomAD)
                      HGVS:
                      11.

                      rs1491108892 has merged into rs1191752115 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT [Show Flanks]
                        Chromosome:
                        19:3145353 (GRCh38)
                        19:3145351 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000019.10:3145336:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT
                        Gene:
                        GNA15 (Varview), GNA15-DT (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        ATATATATATATATATAT=0./0 (ALFA)
                        HGVS:
                        NC_000019.10:g.3145337AT[8], NC_000019.10:g.3145337AT[9], NC_000019.10:g.3145337AT[10], NC_000019.10:g.3145337AT[11], NC_000019.10:g.3145337AT[13], NC_000019.10:g.3145337AT[14], NC_000019.10:g.3145337AT[15], NC_000019.10:g.3145337AT[16], NC_000019.10:g.3145337AT[17], NC_000019.10:g.3145337AT[18], NC_000019.10:g.3145337AT[19], NC_000019.10:g.3145337AT[20], NC_000019.10:g.3145337AT[21], NC_000019.10:g.3145337AT[22], NC_000019.10:g.3145337AT[23], NC_000019.10:g.3145337AT[24], NC_000019.10:g.3145337AT[25], NC_000019.10:g.3145337AT[26], NC_000019.9:g.3145335AT[8], NC_000019.9:g.3145335AT[9], NC_000019.9:g.3145335AT[10], NC_000019.9:g.3145335AT[11], NC_000019.9:g.3145335AT[13], NC_000019.9:g.3145335AT[14], NC_000019.9:g.3145335AT[15], NC_000019.9:g.3145335AT[16], NC_000019.9:g.3145335AT[17], NC_000019.9:g.3145335AT[18], NC_000019.9:g.3145335AT[19], NC_000019.9:g.3145335AT[20], NC_000019.9:g.3145335AT[21], NC_000019.9:g.3145335AT[22], NC_000019.9:g.3145335AT[23], NC_000019.9:g.3145335AT[24], NC_000019.9:g.3145335AT[25], NC_000019.9:g.3145335AT[26]
                        12.

                        rs1491081023 has merged into rs143429911 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTTTTTTTT>-,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                          Chromosome:
                          19:3138802 (GRCh38)
                          19:3138800 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:3138797:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
                          Gene:
                          GNA15 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTTTTT=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491075291 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            GG>- [Show Flanks]
                            Chromosome:
                            19:3156467 (GRCh38)
                            19:3156465 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:3156466:GG:
                            Gene:
                            GNA15 (Varview), GNA15-DT (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1490930243 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TATATATATACA>- [Show Flanks]
                              Chromosome:
                              19:3135883 (GRCh38)
                              19:3135881 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:3135881:ATATATATATACA:A
                              Gene:
                              GNA15 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              -=0.00115/50 (GnomAD)
                              -=0.00346/6 (Korea1K)
                              -=0.01104/182 (TOMMO)
                              HGVS:
                              15.

                              rs1490769326 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                19:3152574 (GRCh38)
                                19:3152572 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:3152573:C:A
                                Gene:
                                GNA15 (Varview), GNA15-DT (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:
                                16.

                                rs1490677966 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  19:3144168 (GRCh38)
                                  19:3144166 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:3144167:C:A
                                  Gene:
                                  GNA15 (Varview), GNA15-DT (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1490626611 has merged into rs112224395 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    19:3159354 (GRCh38)
                                    19:3159352 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:3159346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    GNA15 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTT=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1490570532 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      19:3158472 (GRCh38)
                                      19:3158470 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:3158471:G:A,NC_000019.10:3158471:G:T
                                      Gene:
                                      GNA15 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1490544494 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        19:3143171 (GRCh38)
                                        19:3143169 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:3143170:C:A,NC_000019.10:3143170:C:T
                                        Gene:
                                        GNA15 (Varview), GNA15-DT (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490477064 has merged into rs1310550380 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          C>-,CC [Show Flanks]
                                          Chromosome:
                                          19:3146735 (GRCh38)
                                          19:3146733 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:3146734:CCCCCC:CCCCC,NC_000019.10:3146734:CCCCCC:CCCCCCC
                                          Gene:
                                          GNA15 (Varview), GNA15-DT (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CCCCCCC=0./0 (ALFA)
                                          -=0.000019/5 (TOPMED)
                                          HGVS:

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