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Items: 1 to 20 of 2161

1.

rs1490030078 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:9105978 (GRCh38)
    2:9246107 (GRCh37)
    Canonical SPDI:
    NC_000002.12:9105977:C:T
    Gene:
    LOC105373414 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1489619162 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:9104555 (GRCh38)
      2:9244684 (GRCh37)
      Canonical SPDI:
      NC_000002.12:9104554:A:G
      Gene:
      LOC105373414 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1488777231 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        2:9101454 (GRCh38)
        2:9241583 (GRCh37)
        Canonical SPDI:
        NC_000002.12:9101453:G:A,NC_000002.12:9101453:G:T
        Gene:
        LOC105373414 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1488500586 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          2:9106895 (GRCh38)
          2:9247024 (GRCh37)
          Canonical SPDI:
          NC_000002.12:9106894:T:C
          Gene:
          LOC105373414 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1488492940 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:9107489 (GRCh38)
            2:9247618 (GRCh37)
            Canonical SPDI:
            NC_000002.12:9107488:C:T
            Gene:
            LOC105373414 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1488021623 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              2:9104818 (GRCh38)
              2:9244947 (GRCh37)
              Canonical SPDI:
              NC_000002.12:9104817:C:G
              Gene:
              LOC105373414 (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:
              7.

              rs1487744736 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                T>C
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1487641670 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:9108855 (GRCh38)
                  2:9248984 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:9108854:G:A
                  Gene:
                  LOC105373414 (Varview), LOC105373416 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1487474561 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:9109834 (GRCh38)
                    2:9249963 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:9109833:G:A
                    Gene:
                    LOC105373414 (Varview), LOC105373416 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000132/2 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000446/2 (Estonian)
                    HGVS:
                    10.

                    rs1487272137 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:9100734 (GRCh38)
                      2:9240863 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:9100733:C:T
                      Gene:
                      LOC105373414 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1487096796 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:9104197 (GRCh38)
                        2:9244326 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:9104196:T:C
                        Gene:
                        LOC105373414 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1487080916 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          2:9110018 (GRCh38)
                          2:9250147 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:9110017:C:A,NC_000002.12:9110017:C:T
                          Gene:
                          LOC105373414 (Varview), LOC105373416 (Varview)
                          Functional Consequence:
                          500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1487026212 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:9105251 (GRCh38)
                            2:9245380 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:9105250:T:C
                            Gene:
                            LOC105373414 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1486549523 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:9100825 (GRCh38)
                              2:9240954 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:9100824:G:A
                              Gene:
                              LOC105373414 (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:
                              15.

                              rs1486033003 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:9108522 (GRCh38)
                                2:9248651 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:9108521:T:C
                                Gene:
                                LOC105373414 (Varview), LOC105373416 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1485501887 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CTTACCGGCC>- [Show Flanks]
                                  Chromosome:
                                  2:9105756 (GRCh38)
                                  2:9245885 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:9105752:GCCCTTACCGGCC:GCC
                                  Gene:
                                  LOC105373414 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GCC=0./0 (ALFA)
                                  -=0.000007/1 (GnomAD)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1485237712 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    2:9105636 (GRCh38)
                                    2:9245765 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:9105635:C:A
                                    Gene:
                                    LOC105373414 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.00003/8 (TOPMED)
                                    A=0.000342/1 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1485210070 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:9110170 (GRCh38)
                                      2:9250299 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:9110169:T:C
                                      Gene:
                                      LOC105373414 (Varview), LOC105373416 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1484440156 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TT>- [Show Flanks]
                                        Chromosome:
                                        2:9105792 (GRCh38)
                                        2:9245921 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:9105790:TTT:T
                                        Gene:
                                        LOC105373414 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        -=0.00005/7 (GnomAD)
                                        -=0.000072/19 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484167138 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          2:9101522 (GRCh38)
                                          2:9241651 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:9101521:A:T
                                          Gene:
                                          LOC105373414 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

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