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Items: 1 to 20 of 7158

1.

rs1491514195 has merged into rs781136385 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    4:139642305 (GRCh38)
    4:140563459 (GRCh37)
    Canonical SPDI:
    NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    QKILA (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000004.12:g.139642305_139642316del, NC_000004.12:g.139642307_139642316del, NC_000004.12:g.139642308_139642316del, NC_000004.12:g.139642309_139642316del, NC_000004.12:g.139642311_139642316del, NC_000004.12:g.139642312_139642316del, NC_000004.12:g.139642313_139642316del, NC_000004.12:g.139642314_139642316del, NC_000004.12:g.139642315_139642316del, NC_000004.12:g.139642316del, NC_000004.12:g.139642316dup, NC_000004.12:g.139642315_139642316dup, NC_000004.12:g.139642314_139642316dup, NC_000004.12:g.139642313_139642316dup, NC_000004.12:g.139642312_139642316dup, NC_000004.12:g.139642311_139642316dup, NC_000004.12:g.139642310_139642316dup, NC_000004.12:g.139642309_139642316dup, NC_000004.12:g.139642308_139642316dup, NC_000004.12:g.139642307_139642316dup, NC_000004.12:g.139642304_139642316dup, NC_000004.12:g.139642301_139642316dup, NC_000004.12:g.139642296_139642316dup, NC_000004.11:g.140563459_140563470del, NC_000004.11:g.140563461_140563470del, NC_000004.11:g.140563462_140563470del, NC_000004.11:g.140563463_140563470del, NC_000004.11:g.140563465_140563470del, NC_000004.11:g.140563466_140563470del, NC_000004.11:g.140563467_140563470del, NC_000004.11:g.140563468_140563470del, NC_000004.11:g.140563469_140563470del, NC_000004.11:g.140563470del, NC_000004.11:g.140563470dup, NC_000004.11:g.140563469_140563470dup, NC_000004.11:g.140563468_140563470dup, NC_000004.11:g.140563467_140563470dup, NC_000004.11:g.140563466_140563470dup, NC_000004.11:g.140563465_140563470dup, NC_000004.11:g.140563464_140563470dup, NC_000004.11:g.140563463_140563470dup, NC_000004.11:g.140563462_140563470dup, NC_000004.11:g.140563461_140563470dup, NC_000004.11:g.140563458_140563470dup, NC_000004.11:g.140563455_140563470dup, NC_000004.11:g.140563450_140563470dup
    2.

    rs1491464078 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->AT [Show Flanks]
      Chromosome:
      4:139621776 (GRCh38)
      4:140542931 (GRCh37)
      Canonical SPDI:
      NC_000004.12:139621776:T:TAT
      Gene:
      QKILA (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      TAT=0.00008/1 (ALFA)
      HGVS:
      3.

      rs1491413273 has merged into rs869222727 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AA>-,AAAA [Show Flanks]
        Chromosome:
        4:139619529 (GRCh38)
        4:140540683 (GRCh37)
        Canonical SPDI:
        NC_000004.12:139619527:AAA:A,NC_000004.12:139619527:AAA:AAAAA
        Gene:
        QKILA (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by cluster
        HGVS:
        4.

        rs1491407786 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          GA>-
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1491405047 has merged into rs70943433 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AATAATAATAATAAT>-,AAT,AATAAT,AATAATAAT,AATAATAATAAT,AATAATAATAATAATAAT,AATAATAATAATAATAATAAT [Show Flanks]
            Chromosome:
            4:139619544 (GRCh38)
            4:140540698 (GRCh37)
            Canonical SPDI:
            NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAAT
            Gene:
            QKILA (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AATAATAATAATAATAAT=0./0 (ALFA)
            HGVS:
            6.

            rs1491108671 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TT>- [Show Flanks]
              Chromosome:
              4:139621778 (GRCh38)
              4:140542932 (GRCh37)
              Canonical SPDI:
              NC_000004.12:139621775:TTTT:TT
              Gene:
              QKILA (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTT=0./0 (ALFA)
              -=0.000007/1 (GnomAD)
              -=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1491079729 has merged into rs150061523 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                4:139641947 (GRCh38)
                4:140563101 (GRCh37)
                Canonical SPDI:
                NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                QKILA (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAA=0./0 (ALFA)
                -=0.3502/1754 (1000Genomes)
                HGVS:
                NC_000004.12:g.139641947_139641957del, NC_000004.12:g.139641948_139641957del, NC_000004.12:g.139641952_139641957del, NC_000004.12:g.139641953_139641957del, NC_000004.12:g.139641954_139641957del, NC_000004.12:g.139641955_139641957del, NC_000004.12:g.139641956_139641957del, NC_000004.12:g.139641957del, NC_000004.12:g.139641957dup, NC_000004.12:g.139641956_139641957dup, NC_000004.12:g.139641955_139641957dup, NC_000004.12:g.139641954_139641957dup, NC_000004.12:g.139641953_139641957dup, NC_000004.11:g.140563101_140563111del, NC_000004.11:g.140563102_140563111del, NC_000004.11:g.140563106_140563111del, NC_000004.11:g.140563107_140563111del, NC_000004.11:g.140563108_140563111del, NC_000004.11:g.140563109_140563111del, NC_000004.11:g.140563110_140563111del, NC_000004.11:g.140563111del, NC_000004.11:g.140563111dup, NC_000004.11:g.140563110_140563111dup, NC_000004.11:g.140563109_140563111dup, NC_000004.11:g.140563108_140563111dup, NC_000004.11:g.140563107_140563111dup
                8.

                rs1490748116 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  4:139640430 (GRCh38)
                  4:140561584 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:139640429:A:G
                  Gene:
                  QKILA (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000066/1 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000223/1 (Estonian)
                  HGVS:
                  9.

                  rs1490720006 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    4:139635994 (GRCh38)
                    4:140557148 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:139635993:A:G,NC_000004.12:139635993:A:T
                    Gene:
                    QKILA (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    G=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1490697221 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:139621557 (GRCh38)
                      4:140542711 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:139621556:A:G
                      Gene:
                      QKILA (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490584690 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        4:139641282 (GRCh38)
                        4:140562436 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:139641281:T:G
                        Gene:
                        QKILA (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1490491132 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->TTTTT [Show Flanks]
                          Chromosome:
                          4:139627493 (GRCh38)
                          4:140548648 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:139627493:T:TTTTTT
                          Gene:
                          QKILA (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TTTTTT=0.0004/2 (ALFA)
                          TTTTT=0.0004/2 (Estonian)
                          HGVS:
                          13.

                          rs1490466186 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:139628090 (GRCh38)
                            4:140549244 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:139628089:A:G
                            Gene:
                            QKILA (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1490158373 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              4:139629981 (GRCh38)
                              4:140551135 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:139629980:C:A
                              Gene:
                              QKILA (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:
                              15.

                              rs1490053163 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:139626482 (GRCh38)
                                4:140547636 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:139626481:A:G
                                Gene:
                                QKILA (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489908252 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->CC [Show Flanks]
                                  Chromosome:
                                  4:139623151 (GRCh38)
                                  4:140544306 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:139623151::CC
                                  Gene:
                                  QKILA (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  CC=0./0 (ALFA)
                                  CC=0.000043/6 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489883216 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:139621972 (GRCh38)
                                    4:140543126 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:139621971:C:T
                                    Gene:
                                    QKILA (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000019/5 (TOPMED)
                                    T=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489720741 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:139642160 (GRCh38)
                                      4:140563314 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:139642159:C:T
                                      Gene:
                                      QKILA (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000029/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489618789 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        4:139644037 (GRCh38)
                                        4:140565191 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:139644036:A:G
                                        Gene:
                                        QKILA (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.0027/5 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1489244769 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          4:139642144 (GRCh38)
                                          4:140563298 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:139642143:G:A,NC_000004.12:139642143:G:T
                                          Gene:
                                          QKILA (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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