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Items: 1 to 20 of 1000

1.

rs1491502103 has merged into rs34711370 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TATA>-,TA,TATATA,TATATATA,TATATATATA [Show Flanks]
    Chromosome:
    9:99865315 (GRCh38)
    9:102627597 (GRCh37)
    Canonical SPDI:
    NC_000009.12:99865301:ATATATATATATATATA:ATATATATATATA,NC_000009.12:99865301:ATATATATATATATATA:ATATATATATATATA,NC_000009.12:99865301:ATATATATATATATATA:ATATATATATATATATATA,NC_000009.12:99865301:ATATATATATATATATA:ATATATATATATATATATATA,NC_000009.12:99865301:ATATATATATATATATA:ATATATATATATATATATATATA
    Gene:
    NR4A3 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATATATATA=0./0 (ALFA)
    AT=0.264/1322 (1000Genomes)
    AT=0.3611/13 (GENOME_DK)
    AT=0.3683/221 (NorthernSweden)
    HGVS:
    NC_000009.12:g.99865303TA[6], NC_000009.12:g.99865303TA[7], NC_000009.12:g.99865303TA[9], NC_000009.12:g.99865303TA[10], NC_000009.12:g.99865303TA[11], NC_000009.11:g.102627585TA[6], NC_000009.11:g.102627585TA[7], NC_000009.11:g.102627585TA[9], NC_000009.11:g.102627585TA[10], NC_000009.11:g.102627585TA[11], NG_028910.1:g.48449TA[6], NG_028910.1:g.48449TA[7], NG_028910.1:g.48449TA[9], NG_028910.1:g.48449TA[10], NG_028910.1:g.48449TA[11], NM_006981.4:c.*1436TA[6], NM_006981.4:c.*1436TA[7], NM_006981.4:c.*1436TA[9], NM_006981.4:c.*1436TA[10], NM_006981.4:c.*1436TA[11], NM_006981.3:c.*1436TA[6], NM_006981.3:c.*1436TA[7], NM_006981.3:c.*1436TA[9], NM_006981.3:c.*1436TA[10], NM_006981.3:c.*1436TA[11], NM_173200.3:c.*1436TA[6], NM_173200.3:c.*1436TA[7], NM_173200.3:c.*1436TA[9], NM_173200.3:c.*1436TA[10], NM_173200.3:c.*1436TA[11], NM_173200.2:c.*1436TA[6], NM_173200.2:c.*1436TA[7], NM_173200.2:c.*1436TA[9], NM_173200.2:c.*1436TA[10], NM_173200.2:c.*1436TA[11], XM_017015162.2:c.*1436TA[6], XM_017015162.2:c.*1436TA[7], XM_017015162.2:c.*1436TA[9], XM_017015162.2:c.*1436TA[10], XM_017015162.2:c.*1436TA[11], XM_017015162.1:c.*1436TA[6], XM_017015162.1:c.*1436TA[7], XM_017015162.1:c.*1436TA[9], XM_017015162.1:c.*1436TA[10], XM_017015162.1:c.*1436TA[11], NM_173198.1:c.*1436TA[6], NM_173198.1:c.*1436TA[7], NM_173198.1:c.*1436TA[9], NM_173198.1:c.*1436TA[10], NM_173198.1:c.*1436TA[11]
    2.

    rs1491395892 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      9:99843681 (GRCh38)
      9:102605963 (GRCh37)
      Canonical SPDI:
      NC_000009.12:99843680:AT:
      Gene:
      NR4A3 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000098/11 (GnomAD)
      HGVS:
      3.

      rs1491302862 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GT>- [Show Flanks]
        Chromosome:
        9:99860214 (GRCh38)
        9:102622496 (GRCh37)
        Canonical SPDI:
        NC_000009.12:99860213:GT:
        Gene:
        NR4A3 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.000285/4 (ALFA)
        -=0.000465/123 (TOPMED)
        -=0.000599/3 (1000Genomes)
        -=0.000805/86 (GnomAD)
        HGVS:
        4.

        rs1491025645 has merged into rs748013375 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GG>- [Show Flanks]
          Chromosome:
          9:99841734 (GRCh38)
          9:102604016 (GRCh37)
          Canonical SPDI:
          NC_000009.12:99841732:GGG:G
          Gene:
          NR4A3 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          -=0.000015/2 (GnomAD)
          HGVS:
          5.

          rs1490995701 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            9:99831502 (GRCh38)
            9:102593784 (GRCh37)
            Canonical SPDI:
            NC_000009.12:99831501:T:G
            Gene:
            NR4A3 (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:
            6.

            rs1490923254 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:99850747 (GRCh38)
              9:102613029 (GRCh37)
              Canonical SPDI:
              NC_000009.12:99850746:T:C
              Gene:
              NR4A3 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,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:
              7.

              rs1490900895 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                9:99851368 (GRCh38)
                9:102613650 (GRCh37)
                Canonical SPDI:
                NC_000009.12:99851367:G:A
                Gene:
                NR4A3 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490834375 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  9:99860366 (GRCh38)
                  9:102622648 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:99860365:T:C
                  Gene:
                  NR4A3 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490739835 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:99839865 (GRCh38)
                    9:102602147 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:99839864:C:T
                    Gene:
                    NR4A3 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490645538 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:99822067 (GRCh38)
                      9:102584349 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:99822066:C:T
                      Gene:
                      NR4A3 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490615636 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        9:99829819 (GRCh38)
                        9:102592101 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:99829818:G:T
                        Gene:
                        NR4A3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        T=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1490612250 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          9:99839993 (GRCh38)
                          9:102602276 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:99839993:AAAAAA:AAAAAAA
                          Gene:
                          NR4A3 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAA=0.000071/1 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1490483804 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:99849139 (GRCh38)
                            9:102611421 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:99849138:G:A
                            Gene:
                            NR4A3 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1490416373 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:99827119 (GRCh38)
                              9:102589401 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:99827118:A:G
                              Gene:
                              NR4A3 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490269835 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:99823907 (GRCh38)
                                9:102586189 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:99823906:C:T
                                Gene:
                                NR4A3 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,upstream_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:
                                16.

                                rs1490046888 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  9:99849566 (GRCh38)
                                  9:102611848 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:99849565:C:G,NC_000009.12:99849565:C:T
                                  Gene:
                                  NR4A3 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.00011/2 (ALFA)
                                  T=0.00045/2 (Estonian)
                                  HGVS:
                                  17.

                                  rs1489964576 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    9:99862102 (GRCh38)
                                    9:102624384 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:99862101:A:C
                                    Gene:
                                    NR4A3 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,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:
                                    18.

                                    rs1489937716 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      9:99857012 (GRCh38)
                                      9:102619294 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:99857011:T:G
                                      Gene:
                                      NR4A3 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489905845 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:99841745 (GRCh38)
                                        9:102604027 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:99841744:C:T
                                        Gene:
                                        NR4A3 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000026/7 (TOPMED)
                                        T=0.000035/4 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489903020 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          9:99853570 (GRCh38)
                                          9:102615852 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:99853569:T:C
                                          Gene:
                                          NR4A3 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.00017/2 (ALFA)
                                          C=0.00006/3 (GnomAD)
                                          HGVS:

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