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 1501

1.

rs1491403754 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->GTTTTTTT
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491312322 has merged into rs1158987417 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      3:130152910 (GRCh38)
      3:129871753 (GRCh37)
      Canonical SPDI:
      NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      LOC107986131 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000003.12:g.130152910_130152923del, NC_000003.12:g.130152912_130152923del, NC_000003.12:g.130152913_130152923del, NC_000003.12:g.130152914_130152923del, NC_000003.12:g.130152915_130152923del, NC_000003.12:g.130152916_130152923del, NC_000003.12:g.130152917_130152923del, NC_000003.12:g.130152918_130152923del, NC_000003.12:g.130152919_130152923del, NC_000003.12:g.130152920_130152923del, NC_000003.12:g.130152921_130152923del, NC_000003.12:g.130152922_130152923del, NC_000003.12:g.130152923del, NC_000003.12:g.130152923dup, NC_000003.12:g.130152922_130152923dup, NC_000003.12:g.130152921_130152923dup, NC_000003.12:g.130152920_130152923dup, NC_000003.12:g.130152919_130152923dup, NC_000003.12:g.130152918_130152923dup, NC_000003.12:g.130152917_130152923dup, NC_000003.12:g.130152916_130152923dup, NC_000003.12:g.130152915_130152923dup, NC_000003.12:g.130152914_130152923dup, NC_000003.12:g.130152913_130152923dup, NC_000003.12:g.130152912_130152923dup, NC_000003.12:g.130152911_130152923dup, NC_000003.12:g.130152910_130152923dup, NC_000003.12:g.130152909_130152923dup, NC_000003.12:g.130152908_130152923dup, NC_000003.12:g.130152907_130152923dup, NC_000003.12:g.130152905_130152923dup, NC_000003.12:g.130152904_130152923dup, NC_000003.12:g.130152903_130152923dup, NC_000003.12:g.130152923_130152924insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.130152923_130152924insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.129871753_129871766del, NC_000003.11:g.129871755_129871766del, NC_000003.11:g.129871756_129871766del, NC_000003.11:g.129871757_129871766del, NC_000003.11:g.129871758_129871766del, NC_000003.11:g.129871759_129871766del, NC_000003.11:g.129871760_129871766del, NC_000003.11:g.129871761_129871766del, NC_000003.11:g.129871762_129871766del, NC_000003.11:g.129871763_129871766del, NC_000003.11:g.129871764_129871766del, NC_000003.11:g.129871765_129871766del, NC_000003.11:g.129871766del, NC_000003.11:g.129871766dup, NC_000003.11:g.129871765_129871766dup, NC_000003.11:g.129871764_129871766dup, NC_000003.11:g.129871763_129871766dup, NC_000003.11:g.129871762_129871766dup, NC_000003.11:g.129871761_129871766dup, NC_000003.11:g.129871760_129871766dup, NC_000003.11:g.129871759_129871766dup, NC_000003.11:g.129871758_129871766dup, NC_000003.11:g.129871757_129871766dup, NC_000003.11:g.129871756_129871766dup, NC_000003.11:g.129871755_129871766dup, NC_000003.11:g.129871754_129871766dup, NC_000003.11:g.129871753_129871766dup, NC_000003.11:g.129871752_129871766dup, NC_000003.11:g.129871751_129871766dup, NC_000003.11:g.129871750_129871766dup, NC_000003.11:g.129871748_129871766dup, NC_000003.11:g.129871747_129871766dup, NC_000003.11:g.129871746_129871766dup, NC_000003.11:g.129871766_129871767insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.129871766_129871767insTTTTTTTTTTTTTTTTTTTTTTTTT
      3.

      rs1490513549 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        3:130151843 (GRCh38)
        3:129870686 (GRCh37)
        Canonical SPDI:
        NC_000003.12:130151842:G:C
        Gene:
        LOC107986131 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000008/2 (TOPMED)
        C=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1490382852 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          3:130154633 (GRCh38)
          3:129873476 (GRCh37)
          Canonical SPDI:
          NC_000003.12:130154632:G:C
          Gene:
          LOC107986131 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490367837 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:130153881 (GRCh38)
            3:129872724 (GRCh37)
            Canonical SPDI:
            NC_000003.12:130153880:T:C
            Gene:
            LOC107986131 (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:
            6.

            rs1490215738 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              3:130154299 (GRCh38)
              3:129873142 (GRCh37)
              Canonical SPDI:
              NC_000003.12:130154298:G:T
              Gene:
              LOC107986131 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490200018 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                3:130153543 (GRCh38)
                3:129872386 (GRCh37)
                Canonical SPDI:
                NC_000003.12:130153542:G:T
                Gene:
                LOC107986131 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489755623 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  3:130155446 (GRCh38)
                  3:129874289 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:130155445:C:T
                  Gene:
                  LOC107986131 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488344820 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    3:130152303 (GRCh38)
                    3:129871146 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:130152302:C:A
                    Gene:
                    LOC107986131 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1487705336 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:130154653 (GRCh38)
                      3:129873496 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:130154652:C:T
                      Gene:
                      LOC107986131 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1486866549 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:130151745 (GRCh38)
                        3:129870588 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:130151744:G:A
                        Gene:
                        LOC107986131 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1486575665 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          3:130151848 (GRCh38)
                          3:129870691 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:130151847:C:A,NC_000003.12:130151847:C:G,NC_000003.12:130151847:C:T
                          Gene:
                          LOC107986131 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1486368723 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            3:130151662 (GRCh38)
                            3:129870505 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:130151661:G:C
                            Gene:
                            LOC107986131 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1486275264 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              3:130155159 (GRCh38)
                              3:129874002 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:130155158:C:G,NC_000003.12:130155158:C:T
                              Gene:
                              LOC107986131 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000054/1 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1485229630 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:130151373 (GRCh38)
                                3:129870216 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:130151372:G:A
                                Gene:
                                LOC107986131 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1484644589 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:130154459 (GRCh38)
                                  3:129873302 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:130154458:C:T
                                  Gene:
                                  LOC107986131 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000036/5 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1484348369 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:130152816 (GRCh38)
                                    3:129871659 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:130152815:G:A
                                    Gene:
                                    LOC107986131 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000043/6 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1484290129 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:130152983 (GRCh38)
                                      3:129871826 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:130152982:C:T
                                      Gene:
                                      LOC107986131 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1484132579 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        3:130154445 (GRCh38)
                                        3:129873288 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:130154444:G:C,NC_000003.12:130154444:G:T
                                        Gene:
                                        LOC107986131 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1483671698 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:130156083 (GRCh38)
                                          3:129874926 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:130156082:T:C
                                          Gene:
                                          LOC107986131 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000011/3 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000035/1 (TOMMO)
                                          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...