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Items: 1 to 20 of 2669

1.

rs1491374068 has merged into rs58528348 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    2:68835723 (GRCh38)
    2:69062855 (GRCh37)
    Canonical SPDI:
    NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    LINC01890 (Varview), LINC01888 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAA=0./0 (ALFA)
    AAAAAAAAAAAAA=0.2933/1469 (1000Genomes)
    HGVS:
    NC_000002.12:g.68835723_68835737del, NC_000002.12:g.68835724_68835737del, NC_000002.12:g.68835725_68835737del, NC_000002.12:g.68835726_68835737del, NC_000002.12:g.68835727_68835737del, NC_000002.12:g.68835728_68835737del, NC_000002.12:g.68835729_68835737del, NC_000002.12:g.68835730_68835737del, NC_000002.12:g.68835731_68835737del, NC_000002.12:g.68835732_68835737del, NC_000002.12:g.68835733_68835737del, NC_000002.12:g.68835734_68835737del, NC_000002.12:g.68835735_68835737del, NC_000002.12:g.68835736_68835737del, NC_000002.12:g.68835737del, NC_000002.12:g.68835737dup, NC_000002.12:g.68835736_68835737dup, NC_000002.12:g.68835735_68835737dup, NC_000002.12:g.68835734_68835737dup, NC_000002.12:g.68835733_68835737dup, NC_000002.12:g.68835732_68835737dup, NC_000002.12:g.68835731_68835737dup, NC_000002.12:g.68835729_68835737dup, NC_000002.12:g.68835728_68835737dup, NC_000002.12:g.68835727_68835737dup, NC_000002.11:g.69062855_69062869del, NC_000002.11:g.69062856_69062869del, NC_000002.11:g.69062857_69062869del, NC_000002.11:g.69062858_69062869del, NC_000002.11:g.69062859_69062869del, NC_000002.11:g.69062860_69062869del, NC_000002.11:g.69062861_69062869del, NC_000002.11:g.69062862_69062869del, NC_000002.11:g.69062863_69062869del, NC_000002.11:g.69062864_69062869del, NC_000002.11:g.69062865_69062869del, NC_000002.11:g.69062866_69062869del, NC_000002.11:g.69062867_69062869del, NC_000002.11:g.69062868_69062869del, NC_000002.11:g.69062869del, NC_000002.11:g.69062869dup, NC_000002.11:g.69062868_69062869dup, NC_000002.11:g.69062867_69062869dup, NC_000002.11:g.69062866_69062869dup, NC_000002.11:g.69062865_69062869dup, NC_000002.11:g.69062864_69062869dup, NC_000002.11:g.69062863_69062869dup, NC_000002.11:g.69062861_69062869dup, NC_000002.11:g.69062860_69062869dup, NC_000002.11:g.69062859_69062869dup
    2.

    rs1491191615 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      2:68835712 (GRCh38)
      2:69062844 (GRCh37)
      Canonical SPDI:
      NC_000002.12:68835711:CA:
      Gene:
      LINC01890 (Varview), LINC01888 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00008/1 (ALFA)
      -=0.00002/1 (GnomAD)
      -=0.00004/1 (TOMMO)
      -=0.00397/7 (Korea1K)
      HGVS:
      3.

      rs1490979142 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:68830480 (GRCh38)
        2:69057612 (GRCh37)
        Canonical SPDI:
        NC_000002.12:68830479:T:C
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490679166 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          2:68831366 (GRCh38)
          2:69058498 (GRCh37)
          Canonical SPDI:
          NC_000002.12:68831365:A:C,NC_000002.12:68831365:A:G
          Gene:
          LINC01890 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          HGVS:
          5.

          rs1490211368 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            2:68834029 (GRCh38)
            2:69061161 (GRCh37)
            Canonical SPDI:
            NC_000002.12:68834028:A:T
            Gene:
            LINC01890 (Varview), LINC01888 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,2KB_upstream_variant
            HGVS:
            6.

            rs1489925849 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:68838862 (GRCh38)
              2:69065994 (GRCh37)
              Canonical SPDI:
              NC_000002.12:68838861:T:C
              Gene:
              LINC01890 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489878618 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                2:68838490 (GRCh38)
                2:69065622 (GRCh37)
                Canonical SPDI:
                NC_000002.12:68838489:G:T
                Gene:
                LINC01890 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000022/3 (GnomAD)
                HGVS:
                8.

                rs1489651921 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:68831128 (GRCh38)
                  2:69058260 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:68831127:C:T
                  Gene:
                  LINC01890 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  T=0.000156/1 (1000Genomes)
                  HGVS:
                  9.

                  rs1488961215 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    2:68833212 (GRCh38)
                    2:69060344 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:68833211:A:G
                    Gene:
                    LINC01890 (Varview), LINC01888 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1488704692 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      2:68836052 (GRCh38)
                      2:69063184 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:68836051:A:C
                      Gene:
                      LINC01890 (Varview), LINC01888 (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:
                      11.

                      rs1488563605 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:68837502 (GRCh38)
                        2:69064634 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:68837501:C:T
                        Gene:
                        LINC01890 (Varview), LINC01888 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1488532065 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          2:68836541 (GRCh38)
                          2:69063673 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:68836540:C:A
                          Gene:
                          LINC01890 (Varview), LINC01888 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1488342041 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            2:68827336 (GRCh38)
                            2:69054468 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:68827335:T:A,NC_000002.12:68827335:T:C
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000014/2 (GnomAD)
                            A=0.00003/8 (TOPMED)
                            C=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs1488224278 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              2:68838886 (GRCh38)
                              2:69066018 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:68838885:A:C
                              Gene:
                              LINC01890 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1488134605 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:68827207 (GRCh38)
                                2:69054339 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:68827206:T:C
                                Gene:
                                ARHGAP25 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0./0 (GnomAD)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1488118124 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  2:68838234 (GRCh38)
                                  2:69065366 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:68838233:A:G,NC_000002.12:68838233:A:T
                                  Gene:
                                  LINC01890 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1487928804 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    2:68838462 (GRCh38)
                                    2:69065594 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:68838461:C:A
                                    Gene:
                                    LINC01890 (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=0.000008/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1487915099 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      2:68829928 (GRCh38)
                                      2:69057060 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:68829927:G:C,NC_000002.12:68829927:G:T
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486903771 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        2:68827358 (GRCh38)
                                        2:69054490 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:68827357:A:C
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        C=0.000021/3 (GnomAD)
                                        HGVS:

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