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Links from Gene

Items: 1 to 20 of 718

1.

rs1490839649 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    9:65142040 (GRCh38)
    9:-1 (GRCh37)
    Canonical SPDI:
    NC_000009.12:65142039:T:A
    Gene:
    LOC102724507 (Varview), LOC105379443 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.00016/8 (GnomAD)
    A=0.00078/5 (1000Genomes)
    A=0.00235/62 (TOMMO)
    A=0.00671/12 (Korea1K)
    HGVS:
    2.

    rs1490701801 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      9:65138239 (GRCh38)
      9:-1 (GRCh37)
      Canonical SPDI:
      NC_000009.12:65138238:C:A
      Gene:
      LOC102724507 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:
      3.

      rs1490676455 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        9:65142801 (GRCh38)
        9:-1 (GRCh37)
        Canonical SPDI:
        NC_000009.12:65142800:T:A
        Gene:
        LOC102724507 (Varview), LOC105379443 (Varview)
        Functional Consequence:
        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        HGVS:
        4.

        rs1490539228 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          9:65140261 (GRCh38)
          9:-1 (GRCh37)
          Canonical SPDI:
          NC_000009.12:65140260:C:G,NC_000009.12:65140260:C:T
          Gene:
          LOC102724507 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1490261184 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            9:65135472 (GRCh38)
            9:-1 (GRCh37)
            Canonical SPDI:
            NC_000009.12:65135471:G:T
            Gene:
            LOC102724507 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.00008/1 (ALFA)
            HGVS:
            6.

            rs1490211011 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:65137684 (GRCh38)
              9:-1 (GRCh37)
              Canonical SPDI:
              NC_000009.12:65137683:G:A
              Gene:
              LOC102724507 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.00008/1 (ALFA)
              A=0.00005/2 (GnomAD)
              HGVS:
              7.

              rs1489327621 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:65143839 (GRCh38)
                9:-1 (GRCh37)
                Canonical SPDI:
                NC_000009.12:65143838:T:C
                Gene:
                LOC102724507 (Varview), LOC105379443 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.00295/35 (ALFA)
                HGVS:
                8.

                rs1489289151 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  9:65137313 (GRCh38)
                  9:-1 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:65137312:A:G
                  Gene:
                  LOC102724507 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1488569872 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    9:65137335 (GRCh38)
                    9:-1 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:65137334:G:C
                    Gene:
                    LOC102724507 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.00004/1 (GnomAD)
                    HGVS:
                    10.

                    rs1487313648 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TGA>- [Show Flanks]
                      Chromosome:
                      9:65136284 (GRCh38)
                      9:2 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:65136280:TGATGA:TGA
                      Gene:
                      LOC102724507 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TGATGA=0./0 (ALFA)
                      -=0.00017/3 (GnomAD)
                      HGVS:
                      11.

                      rs1487265452 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        9:65144711 (GRCh38)
                        9:-1 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:65144710:C:T
                        Gene:
                        LOC102724507 (Varview), LOC105379443 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.00008/2 (GnomAD)
                        HGVS:
                        12.

                        rs1486177029 has merged into rs1221631617 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          A>-,AA [Show Flanks]
                          Chromosome:
                          9:65138493 (GRCh38)
                          9:-1 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:65138492:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:65138492:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
                          Gene:
                          LOC102724507 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAAAAA=0./0 (ALFA)
                          -=0.00114/13 (TOMMO)
                          -=0.00156/10 (1000Genomes)
                          HGVS:
                          13.

                          rs1486046113 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            9:65142113 (GRCh38)
                            9:-1 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:65142112:T:A
                            Gene:
                            LOC102724507 (Varview), LOC105379443 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1485524925 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              9:65137451 (GRCh38)
                              9:-1 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:65137450:A:C
                              Gene:
                              LOC102724507 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.00019/5 (TOMMO)
                              HGVS:
                              15.

                              rs1485392318 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                9:65139028 (GRCh38)
                                9:-1 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:65139027:A:C
                                Gene:
                                LOC102724507 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.01416/168 (ALFA)
                                C=0.11379/1165 (TOMMO)
                                C=0.14072/94 (Korea1K)
                                HGVS:
                                16.

                                rs1484360964 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  9:65144370 (GRCh38)
                                  9:-1 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:65144369:C:G
                                  Gene:
                                  LOC102724507 (Varview), LOC105379443 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.
                                  18.

                                  rs1482303947 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:65142240 (GRCh38)
                                    9:-1 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:65142239:C:T
                                    Gene:
                                    LOC102724507 (Varview), LOC105379443 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    19.

                                    rs1482065026 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      9:65143564 (GRCh38)
                                      9:-1 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:65143563:C:A,NC_000009.12:65143563:C:G
                                      Gene:
                                      LOC102724507 (Varview), LOC105379443 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.00202/24 (ALFA)
                                      A=0.00056/10 (TOMMO)
                                      HGVS:
                                      20.

                                      rs1481787528 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:65141860 (GRCh38)
                                        9:-1 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:65141859:G:A
                                        Gene:
                                        LOC102724507 (Varview), LOC105379443 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:

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