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Items: 1 to 20 of 10579

1.

rs1491565063 has merged into rs1482568604 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TA>-,TATA [Show Flanks]
    Chromosome:
    19:21914615 (GRCh38)
    19:22097417 (GRCh37)
    Canonical SPDI:
    NC_000019.10:21914607:ATATATATA:ATATATA,NC_000019.10:21914607:ATATATATA:ATATATATATA
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATATA=0./0 (ALFA)
    -=0.000035/1 (TOMMO)
    -=0.00008/9 (GnomAD)
    HGVS:
    2.

    rs1491553756 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      19:21914375 (GRCh38)
      19:22097177 (GRCh37)
      Canonical SPDI:
      NC_000019.10:21914374:TG:
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491514122 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GG>- [Show Flanks]
        Chromosome:
        19:21914208 (GRCh38)
        19:22097010 (GRCh37)
        Canonical SPDI:
        NC_000019.10:21914207:GG:
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.0011/13 (ALFA)
        -=0.00025/7 (GnomAD)
        -=0.001/26 (TOMMO)
        HGVS:
        4.

        rs1491509501 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AC>- [Show Flanks]
          Chromosome:
          19:21880827 (GRCh38)
          19:22063629 (GRCh37)
          Canonical SPDI:
          NC_000019.10:21880826:AC:
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:
          5.

          rs1491495745 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            19:21891559 (GRCh38)
            19:22074361 (GRCh37)
            Canonical SPDI:
            NC_000019.10:21891557:TTT:T
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            -=0.000778/3 (ALSPAC)
            -=0.001079/4 (TWINSUK)
            HGVS:
            6.

            rs1491481281 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->TATATATATGGATTATATATA,TCTATATATGGATTATATATA [Show Flanks]
              Chromosome:
              19:21914641 (GRCh38)
              19:22097444 (GRCh37)
              Canonical SPDI:
              NC_000019.10:21914641:TATATATA:TATATATATATATATATGGATTATATATA,NC_000019.10:21914641:TATATATA:TATATATATCTATATATGGATTATATATA
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TATATATATCTATATATGGATTATATATA=0./0 (ALFA)
              HGVS:
              7.

              rs1491473125 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->GC [Show Flanks]
                Chromosome:
                19:21880831 (GRCh38)
                19:22063634 (GRCh37)
                Canonical SPDI:
                NC_000019.10:21880831:C:CGC
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CGC=0./0 (ALFA)
                CG=0.00006/2 (GnomAD)
                HGVS:
                8.

                rs1491468286 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CT>- [Show Flanks]
                  Chromosome:
                  19:21914220 (GRCh38)
                  19:22097022 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:21914218:TCT:T
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  -=0.00011/2 (GnomAD)
                  HGVS:
                  9.

                  rs1491462397 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TT>- [Show Flanks]
                    Chromosome:
                    19:21914969 (GRCh38)
                    19:22097771 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:21914966:TTTT:TT
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TTTT=0.00084/10 (ALFA)
                    HGVS:
                    10.

                    rs1491437046 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      AC>- [Show Flanks]
                      Chromosome:
                      19:21890093 (GRCh38)
                      19:22072895 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:21890092:AC:
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.00006/4 (GnomAD)
                      HGVS:
                      11.

                      rs1491418307 has merged into rs763968707 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC [Show Flanks]
                        Chromosome:
                        19:21880839 (GRCh38)
                        19:22063641 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000019.10:21880830:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CCCCCCCCC=0./0 (ALFA)
                        -=0.125/5 (GENOME_DK)
                        HGVS:
                        NC_000019.10:g.21880839_21880842del, NC_000019.10:g.21880840_21880842del, NC_000019.10:g.21880841_21880842del, NC_000019.10:g.21880842del, NC_000019.10:g.21880842dup, NC_000019.10:g.21880841_21880842dup, NC_000019.10:g.21880840_21880842dup, NC_000019.10:g.21880835_21880842dup, NC_000019.10:g.21880834_21880842dup, NC_000019.10:g.21880833_21880842dup, NC_000019.10:g.21880832_21880842dup, NC_000019.10:g.21880831_21880842dup, NC_000019.10:g.21880842_21880843insCCCCCCCCCCCCC, NC_000019.10:g.21880842_21880843insCCCCCCCCCCCCCC, NC_000019.10:g.21880842_21880843insCCCCCCCCCCCCCCC, NC_000019.9:g.22063641_22063644del, NC_000019.9:g.22063642_22063644del, NC_000019.9:g.22063643_22063644del, NC_000019.9:g.22063644del, NC_000019.9:g.22063644dup, NC_000019.9:g.22063643_22063644dup, NC_000019.9:g.22063642_22063644dup, NC_000019.9:g.22063637_22063644dup, NC_000019.9:g.22063636_22063644dup, NC_000019.9:g.22063635_22063644dup, NC_000019.9:g.22063634_22063644dup, NC_000019.9:g.22063633_22063644dup, NC_000019.9:g.22063644_22063645insCCCCCCCCCCCCC, NC_000019.9:g.22063644_22063645insCCCCCCCCCCCCCC, NC_000019.9:g.22063644_22063645insCCCCCCCCCCCCCCC
                        12.

                        rs1491389662 has merged into rs1307661568 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TATATA>-,TA,TATA,TATATATA [Show Flanks]
                          Chromosome:
                          19:21914644 (GRCh38)
                          19:22097446 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:21914640:ATATATATA:ATA,NC_000019.10:21914640:ATATATATA:ATATA,NC_000019.10:21914640:ATATATATA:ATATATA,NC_000019.10:21914640:ATATATATA:ATATATATATA
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          ATATATA=0./0 (ALFA)
                          -=0.00004/1 (TOMMO)
                          HGVS:
                          13.

                          rs1491385344 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            GA>- [Show Flanks]
                            Chromosome:
                            19:21914189 (GRCh38)
                            19:22096991 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:21914188:GA:
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.00015/3 (GnomAD)
                            HGVS:
                            14.

                            rs1491378709 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GC [Show Flanks]
                              Chromosome:
                              19:21890094 (GRCh38)
                              19:22072897 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:21890094:C:CGC
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CGC=0./0 (ALFA)
                              CG=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1491369502 has merged into rs1316906457 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ATATAT>-,AT,ATAT,ATATATAT [Show Flanks]
                                Chromosome:
                                19:21914318 (GRCh38)
                                19:22097120 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:21914313:ATATATATAT:ATAT,NC_000019.10:21914313:ATATATATAT:ATATAT,NC_000019.10:21914313:ATATATATAT:ATATATAT,NC_000019.10:21914313:ATATATATAT:ATATATATATAT
                                Validated:
                                by frequency,by alfa
                                MAF:
                                ATAT=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491321577 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->CC [Show Flanks]
                                  Chromosome:
                                  19:21914343 (GRCh38)
                                  19:22097146 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:21914343::CC
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  CC=0.00017/2 (ALFA)
                                  HGVS:
                                  17.

                                  rs1491319244 has merged into rs1404435048 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ATATAT>-,ATAT,ATATATAT [Show Flanks]
                                    Chromosome:
                                    19:21914194 (GRCh38)
                                    19:22096996 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:21914189:ATATATATAT:ATAT,NC_000019.10:21914189:ATATATATAT:ATATATAT,NC_000019.10:21914189:ATATATATAT:ATATATATATAT
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ATATATATATAT=0./0 (ALFA)
                                    -=0.0111/97 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1491295936 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      19:21914314 (GRCh38)
                                      19:22097117 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:21914314:T:TT
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TT=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1491283540 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        ->CT
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:
                                        20.

                                        rs1491223783 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->CC [Show Flanks]
                                          Chromosome:
                                          19:21914375 (GRCh38)
                                          19:22097178 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:21914375::CC
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          CC=0.00573/68 (ALFA)
                                          HGVS:

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