U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 32677

1.

rs1491573976 has merged into rs555669162 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GAGGGAGAGGGA>-,GAGGGA,GAGGGAGAGGGAGAGGGA [Show Flanks]
    Chromosome:
    16:8733829 (GRCh38)
    16:8827686 (GRCh37)
    Canonical SPDI:
    NC_000016.10:8733814:GAGAGGGAGAGGGAGAGGGAGAGGGA:GAGAGGGAGAGGGA,NC_000016.10:8733814:GAGAGGGAGAGGGAGAGGGAGAGGGA:GAGAGGGAGAGGGAGAGGGA,NC_000016.10:8733814:GAGAGGGAGAGGGAGAGGGAGAGGGA:GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA
    Gene:
    ABAT (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GAGAGGGAGAGGGAGAGGGA=0./0 (ALFA)
    -=0.001667/1 (NorthernSweden)
    -=0.00276/46 (TOMMO)
    -=0.008586/43 (1000Genomes)
    -=0.01113/2946 (TOPMED)
    HGVS:
    2.

    rs1491569008 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A,AAA,AAAA,AAAGA,AAAGAAA,AAAGAAAGAAAGAAA,AAAGAAAGAAAGAAAGAAA,AAAGAAAGAAAGAAAGAAAGAAA [Show Flanks]
      Chromosome:
      16:8737988 (GRCh38)
      16:8831846 (GRCh37)
      Canonical SPDI:
      NC_000016.10:8737988::A,NC_000016.10:8737988::AAA,NC_000016.10:8737988::AAAA,NC_000016.10:8737988::AAAGA,NC_000016.10:8737988::AAAGAAA,NC_000016.10:8737988::AAAGAAAGAAAGAAA,NC_000016.10:8737988::AAAGAAAGAAAGAAAGAAA,NC_000016.10:8737988::AAAGAAAGAAAGAAAGAAAGAAA
      Gene:
      ABAT (Varview), LOC107984840 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAA=0./0 (ALFA)
      HGVS:
      NC_000016.10:g.8737988_8737989insA, NC_000016.10:g.8737988_8737989insAAA, NC_000016.10:g.8737988_8737989insAAAA, NC_000016.10:g.8737988_8737989insAAAGA, NC_000016.10:g.8737988_8737989insAAAGAAA, NC_000016.10:g.8737988_8737989insAAAGAAAGAAAGAAA, NC_000016.10:g.8737988_8737989insAAAGAAAGAAAGAAAGAAA, NC_000016.10:g.8737988_8737989insAAAGAAAGAAAGAAAGAAAGAAA, NC_000016.9:g.8831845_8831846insA, NC_000016.9:g.8831845_8831846insAAA, NC_000016.9:g.8831845_8831846insAAAA, NC_000016.9:g.8831845_8831846insAAAGA, NC_000016.9:g.8831845_8831846insAAAGAAA, NC_000016.9:g.8831845_8831846insAAAGAAAGAAAGAAA, NC_000016.9:g.8831845_8831846insAAAGAAAGAAAGAAAGAAA, NC_000016.9:g.8831845_8831846insAAAGAAAGAAAGAAAGAAAGAAA, NG_008432.1:g.68402_68403insA, NG_008432.1:g.68402_68403insAAA, NG_008432.1:g.68402_68403insAAAA, NG_008432.1:g.68402_68403insAAAGA, NG_008432.1:g.68402_68403insAAAGAAA, NG_008432.1:g.68402_68403insAAAGAAAGAAAGAAA, NG_008432.1:g.68402_68403insAAAGAAAGAAAGAAAGAAA, NG_008432.1:g.68402_68403insAAAGAAAGAAAGAAAGAAAGAAA
      3.

      rs1491530522 has merged into rs1406154613 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AGAG>-,AG,AGAGAGAGAG [Show Flanks]
        Chromosome:
        16:8733816 (GRCh38)
        16:8827673 (GRCh37)
        Canonical SPDI:
        NC_000016.10:8733813:AGAGAG:AG,NC_000016.10:8733813:AGAGAG:AGAG,NC_000016.10:8733813:AGAGAG:AGAGAGAGAGAG
        Gene:
        ABAT (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AGAGAGAGAGAG=0./0 (ALFA)
        -=0.000034/9 (TOPMED)
        HGVS:
        4.

        rs1491528450 has merged into rs143434735 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          T>-,TT,TTT,TTTT [Show Flanks]
          Chromosome:
          16:8699984 (GRCh38)
          16:8793841 (GRCh37)
          Canonical SPDI:
          NC_000016.10:8699983:TTTTTTTTT:TTTTTTTT,NC_000016.10:8699983:TTTTTTTTT:TTTTTTTTTT,NC_000016.10:8699983:TTTTTTTTT:TTTTTTTTTTT,NC_000016.10:8699983:TTTTTTTTT:TTTTTTTTTTTT
          Gene:
          ABAT (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTT=0./0 (ALFA)
          -=0.01002/10 (GoNL)
          -=0.01167/7 (NorthernSweden)
          -=0.04832/242 (1000Genomes)
          -=0.05/2 (GENOME_DK)
          T=0.11551/1936 (TOMMO)
          -=0.13865/254 (Korea1K)
          HGVS:
          5.

          rs1491512516 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AC>- [Show Flanks]
            Chromosome:
            16:8733127 (GRCh38)
            16:8826984 (GRCh37)
            Canonical SPDI:
            NC_000016.10:8733126:AC:
            Gene:
            ABAT (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:
            6.

            rs1491511526 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              16:8699323 (GRCh38)
              16:8793180 (GRCh37)
              Canonical SPDI:
              NC_000016.10:8699321:TAT:T
              Gene:
              ABAT (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              -=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1491504637 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AA>- [Show Flanks]
                Chromosome:
                16:8743648 (GRCh38)
                16:8837505 (GRCh37)
                Canonical SPDI:
                NC_000016.10:8743647:AA:
                Gene:
                ABAT (Varview), LOC107984840 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:
                8.

                rs1491501000 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GG>- [Show Flanks]
                  Chromosome:
                  16:8737988 (GRCh38)
                  16:8831845 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:8737987:GG:
                  Gene:
                  ABAT (Varview), LOC107984840 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.00118/14 (ALFA)
                  -=0.00022/3 (TOMMO)
                  -=0.00205/118 (GnomAD)
                  HGVS:
                  9.

                  rs1491495794 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
                    Chromosome:
                    16:8673394 (GRCh38)
                    16:8767252 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:8673394:T:TGT,NC_000016.10:8673394:T:TGTGT,NC_000016.10:8673394:T:TGTGTGT,NC_000016.10:8673394:T:TGTGTGTGT,NC_000016.10:8673394:T:TGTGTGTGTGT
                    Gene:
                    ABAT (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TGTGT=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491488362 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->GG
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1491475616 has merged into rs1379164819 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA [Show Flanks]
                        Chromosome:
                        16:8769588 (GRCh38)
                        16:8863445 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:8769578:AGAGAGAGAGAGA:AGAGAGAGA,NC_000016.10:8769578:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000016.10:8769578:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000016.10:8769578:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000016.10:8769578:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA
                        Gene:
                        ABAT (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AGAGAGAGAGA=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491454805 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->T [Show Flanks]
                          Chromosome:
                          16:8707186 (GRCh38)
                          16:8801044 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:8707186:TTTTTTT:TTTTTTTT
                          Gene:
                          ABAT (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTT=0./0 (ALFA)
                          T=0.000019/5 (TOPMED)
                          T=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1491448200 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->AAT [Show Flanks]
                            Chromosome:
                            16:8769579 (GRCh38)
                            16:8863437 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:8769579::AAT
                            Gene:
                            ABAT (Varview)
                            Functional Consequence:
                            intron_variant
                            HGVS:
                            14.

                            rs1491417384 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              GA>- [Show Flanks]
                              Chromosome:
                              16:8691048 (GRCh38)
                              16:8784905 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:8691047:GA:
                              Gene:
                              ABAT (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000015/2 (GnomAD)
                              HGVS:
                              15.

                              rs1491409443 has merged into rs762237876 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
                                Chromosome:
                                16:8710690 (GRCh38)
                                16:8804547 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:8710683:GAGAGAGAGA:GAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
                                Gene:
                                ABAT (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GAGAGAGAGAGA=0./0 (ALFA)
                                -=0.000121/32 (TOPMED)
                                GAGAGAGAGAGAGAGAGAGAGAGA=0.001724/1 (NorthernSweden)
                                HGVS:
                                NC_000016.10:g.8710684GA[3], NC_000016.10:g.8710684GA[4], NC_000016.10:g.8710684GA[6], NC_000016.10:g.8710684GA[7], NC_000016.10:g.8710684GA[8], NC_000016.10:g.8710684GA[9], NC_000016.10:g.8710684GA[10], NC_000016.10:g.8710684GA[11], NC_000016.10:g.8710684GA[12], NC_000016.10:g.8710684GA[13], NC_000016.10:g.8710684GA[14], NC_000016.10:g.8710684GA[15], NC_000016.10:g.8710684GA[16], NC_000016.10:g.8710684GA[17], NC_000016.10:g.8710684GA[18], NC_000016.10:g.8710684GA[19], NC_000016.10:g.8710684GA[20], NC_000016.10:g.8710684GA[21], NC_000016.10:g.8710684GA[23], NC_000016.9:g.8804541GA[3], NC_000016.9:g.8804541GA[4], NC_000016.9:g.8804541GA[6], NC_000016.9:g.8804541GA[7], NC_000016.9:g.8804541GA[8], NC_000016.9:g.8804541GA[9], NC_000016.9:g.8804541GA[10], NC_000016.9:g.8804541GA[11], NC_000016.9:g.8804541GA[12], NC_000016.9:g.8804541GA[13], NC_000016.9:g.8804541GA[14], NC_000016.9:g.8804541GA[15], NC_000016.9:g.8804541GA[16], NC_000016.9:g.8804541GA[17], NC_000016.9:g.8804541GA[18], NC_000016.9:g.8804541GA[19], NC_000016.9:g.8804541GA[20], NC_000016.9:g.8804541GA[21], NC_000016.9:g.8804541GA[23], NG_008432.1:g.41098GA[3], NG_008432.1:g.41098GA[4], NG_008432.1:g.41098GA[6], NG_008432.1:g.41098GA[7], NG_008432.1:g.41098GA[8], NG_008432.1:g.41098GA[9], NG_008432.1:g.41098GA[10], NG_008432.1:g.41098GA[11], NG_008432.1:g.41098GA[12], NG_008432.1:g.41098GA[13], NG_008432.1:g.41098GA[14], NG_008432.1:g.41098GA[15], NG_008432.1:g.41098GA[16], NG_008432.1:g.41098GA[17], NG_008432.1:g.41098GA[18], NG_008432.1:g.41098GA[19], NG_008432.1:g.41098GA[20], NG_008432.1:g.41098GA[21], NG_008432.1:g.41098GA[23]
                                16.

                                rs1491408889 has merged into rs1418805329 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GG>-,G [Show Flanks]
                                  Chromosome:
                                  16:8711723 (GRCh38)
                                  16:8805580 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:8711721:GGG:G,NC_000016.10:8711721:GGG:GG
                                  Gene:
                                  ABAT (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  -=0.00396/97 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1491402629 has merged into rs1202977957 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CCCC>-,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
                                    Chromosome:
                                    16:8733133 (GRCh38)
                                    16:8826990 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:8733127:CCCCCCCCC:CCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCCCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCCCCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCCCCCCCC
                                    Gene:
                                    ABAT (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    CCCCCCCC=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    C=0.015101/9 (NorthernSweden)
                                    HGVS:
                                    18.

                                    rs1491389269 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      GC>- [Show Flanks]
                                      Chromosome:
                                      16:8764882 (GRCh38)
                                      16:8858739 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:8764881:GC:
                                      Gene:
                                      ABAT (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      HGVS:
                                      19.

                                      rs1491387662 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        ->GAGA
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:
                                        20.

                                        rs1491382772 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->GT [Show Flanks]
                                          Chromosome:
                                          16:8732197 (GRCh38)
                                          16:8826055 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:8732197:T:TGT
                                          Gene:
                                          ABAT (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          TGT=0./0 (ALFA)
                                          TG=0.00019/1 (GnomAD)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...