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Links from Gene

Items: 1 to 20 of 1944

1.

rs1490784308 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    TG>-
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1490775291 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:127657112 (GRCh38)
      12:128141657 (GRCh37)
      Canonical SPDI:
      NC_000012.12:127657111:T:C
      Gene:
      LOC105370068 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490721684 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:127656048 (GRCh38)
        12:128140593 (GRCh37)
        Canonical SPDI:
        NC_000012.12:127656047:A:G
        Gene:
        LOC105370068 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490647560 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          12:127650431 (GRCh38)
          12:128134976 (GRCh37)
          Canonical SPDI:
          NC_000012.12:127650430:G:A,NC_000012.12:127650430:G:C
          Gene:
          LOC105370068 (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:
          5.

          rs1490619927 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            12:127651246 (GRCh38)
            12:128135791 (GRCh37)
            Canonical SPDI:
            NC_000012.12:127651245:C:G
            Gene:
            LOC105370068 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1490230593 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:127655547 (GRCh38)
              12:128140092 (GRCh37)
              Canonical SPDI:
              NC_000012.12:127655546:C:T
              Gene:
              LOC105370068 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1489503571 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                12:127654861 (GRCh38)
                12:128139406 (GRCh37)
                Canonical SPDI:
                NC_000012.12:127654860:C:G,NC_000012.12:127654860:C:T
                Gene:
                LOC105370068 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1488887887 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  12:127654568 (GRCh38)
                  12:128139113 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:127654567:C:G,NC_000012.12:127654567:C:T
                  Gene:
                  LOC105370068 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488837825 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:127655508 (GRCh38)
                    12:128140053 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:127655507:G:A
                    Gene:
                    LOC105370068 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1488595796 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CT>- [Show Flanks]
                      Chromosome:
                      12:127651420 (GRCh38)
                      12:128135965 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:127651417:CTCT:CT
                      Gene:
                      LOC105370068 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CTCT=0./0 (ALFA)
                      -=0.000023/6 (TOPMED)
                      HGVS:
                      11.

                      rs1488418151 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        12:127655196 (GRCh38)
                        12:128139741 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:127655195:G:A,NC_000012.12:127655195:G:T
                        Gene:
                        LOC105370068 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1488233603 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          A>- [Show Flanks]
                          Chromosome:
                          12:127653563 (GRCh38)
                          12:128138108 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:127653562:AAAA:AAA
                          Gene:
                          LOC105370068 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AAA=0./0 (ALFA)
                          -=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1487841061 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:127649247 (GRCh38)
                            12:128133792 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:127649246:G:A
                            Gene:
                            LOC105370068 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1487758156 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              C>- [Show Flanks]
                              Chromosome:
                              12:127654309 (GRCh38)
                              12:128138854 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:127654308:CC:C
                              Gene:
                              LOC105370068 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CC=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487646978 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:127653162 (GRCh38)
                                12:128137707 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:127653161:T:C
                                Gene:
                                LOC105370068 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1486819002 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:127656307 (GRCh38)
                                  12:128140852 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:127656306:A:G
                                  Gene:
                                  LOC105370068 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1486672942 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    12:127652759 (GRCh38)
                                    12:128137304 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:127652758:A:G
                                    Gene:
                                    LOC105370068 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1486613981 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      12:127649417 (GRCh38)
                                      12:128133962 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:127649416:C:G,NC_000012.12:127649416:C:T
                                      Gene:
                                      LOC105370068 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000014/2 (GnomAD)
                                      T=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486452450 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        12:127657566 (GRCh38)
                                        12:128142111 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:127657565:T:C
                                        Gene:
                                        LOC105370068 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000198/3 (ALFA)
                                        C=0.000029/4 (GnomAD)
                                        C=0.00067/3 (Estonian)
                                        HGVS:
                                        20.

                                        rs1484431709 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          12:127654852 (GRCh38)
                                          12:128139397 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:127654851:A:G
                                          Gene:
                                          LOC105370068 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000019/5 (TOPMED)
                                          HGVS:

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