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Items: 1 to 20 of 9542

1.

rs1491588578 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TT [Show Flanks]
    Chromosome:
    12:52031777 (GRCh38)
    12:52425562 (GRCh37)
    Canonical SPDI:
    NC_000012.12:52031777::TT
    Gene:
    NR4A1 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    TT=0./0 (ALFA)
    HGVS:
    2.

    rs1491546056 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->G
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491413006 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        12:52031777 (GRCh38)
        12:52425561 (GRCh37)
        Canonical SPDI:
        NC_000012.12:52031776:AA:
        Gene:
        NR4A1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491298276 has merged into rs34072500 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          12:52028212 (GRCh38)
          12:52421996 (GRCh37)
          Canonical SPDI:
          NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          NR4A1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000012.12:g.52028212_52028229del, NC_000012.12:g.52028213_52028229del, NC_000012.12:g.52028214_52028229del, NC_000012.12:g.52028215_52028229del, NC_000012.12:g.52028216_52028229del, NC_000012.12:g.52028217_52028229del, NC_000012.12:g.52028218_52028229del, NC_000012.12:g.52028219_52028229del, NC_000012.12:g.52028220_52028229del, NC_000012.12:g.52028221_52028229del, NC_000012.12:g.52028222_52028229del, NC_000012.12:g.52028223_52028229del, NC_000012.12:g.52028224_52028229del, NC_000012.12:g.52028225_52028229del, NC_000012.12:g.52028226_52028229del, NC_000012.12:g.52028227_52028229del, NC_000012.12:g.52028228_52028229del, NC_000012.12:g.52028229del, NC_000012.12:g.52028229dup, NC_000012.12:g.52028228_52028229dup, NC_000012.12:g.52028227_52028229dup, NC_000012.12:g.52028226_52028229dup, NC_000012.12:g.52028224_52028229dup, NC_000012.12:g.52028223_52028229dup, NC_000012.11:g.52421996_52422013del, NC_000012.11:g.52421997_52422013del, NC_000012.11:g.52421998_52422013del, NC_000012.11:g.52421999_52422013del, NC_000012.11:g.52422000_52422013del, NC_000012.11:g.52422001_52422013del, NC_000012.11:g.52422002_52422013del, NC_000012.11:g.52422003_52422013del, NC_000012.11:g.52422004_52422013del, NC_000012.11:g.52422005_52422013del, NC_000012.11:g.52422006_52422013del, NC_000012.11:g.52422007_52422013del, NC_000012.11:g.52422008_52422013del, NC_000012.11:g.52422009_52422013del, NC_000012.11:g.52422010_52422013del, NC_000012.11:g.52422011_52422013del, NC_000012.11:g.52422012_52422013del, NC_000012.11:g.52422013del, NC_000012.11:g.52422013dup, NC_000012.11:g.52422012_52422013dup, NC_000012.11:g.52422011_52422013dup, NC_000012.11:g.52422010_52422013dup, NC_000012.11:g.52422008_52422013dup, NC_000012.11:g.52422007_52422013dup
          5.

          rs1491165866 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            12:52028202 (GRCh38)
            12:52421986 (GRCh37)
            Canonical SPDI:
            NC_000012.12:52028201:CA:
            Gene:
            NR4A1 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            HGVS:
            6.

            rs1491163719 has merged into rs1555168682 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA [Show Flanks]
              Chromosome:
              12:52052321 (GRCh38)
              12:52446105 (GRCh37)
              Canonical SPDI:
              NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
              Gene:
              NR4A1 (Varview), LOC107984510 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GAGAGAGAGAGAGAGAGA=0./0 (ALFA)
              HGVS:
              7.

              rs1491102966 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AA>- [Show Flanks]
                Chromosome:
                12:52052329 (GRCh38)
                12:52446113 (GRCh37)
                Canonical SPDI:
                NC_000012.12:52052327:AAA:A
                Gene:
                NR4A1 (Varview), LOC107984510 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000612/10 (ALFA)
                -=0.002248/311 (GnomAD)
                HGVS:
                8.

                rs1491008794 has merged into rs532559170 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  12:52025075 (GRCh38)
                  12:52418859 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  NR4A1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTT=0./0 (ALFA)
                  HGVS:
                  NC_000012.12:g.52025075_52025081del, NC_000012.12:g.52025076_52025081del, NC_000012.12:g.52025077_52025081del, NC_000012.12:g.52025078_52025081del, NC_000012.12:g.52025079_52025081del, NC_000012.12:g.52025080_52025081del, NC_000012.12:g.52025081del, NC_000012.12:g.52025081dup, NC_000012.12:g.52025080_52025081dup, NC_000012.12:g.52025079_52025081dup, NC_000012.12:g.52025078_52025081dup, NC_000012.12:g.52025077_52025081dup, NC_000012.11:g.52418859_52418865del, NC_000012.11:g.52418860_52418865del, NC_000012.11:g.52418861_52418865del, NC_000012.11:g.52418862_52418865del, NC_000012.11:g.52418863_52418865del, NC_000012.11:g.52418864_52418865del, NC_000012.11:g.52418865del, NC_000012.11:g.52418865dup, NC_000012.11:g.52418864_52418865dup, NC_000012.11:g.52418863_52418865dup, NC_000012.11:g.52418862_52418865dup, NC_000012.11:g.52418861_52418865dup, NG_056586.1:g.391_397del, NG_056586.1:g.392_397del, NG_056586.1:g.393_397del, NG_056586.1:g.394_397del, NG_056586.1:g.395_397del, NG_056586.1:g.396_397del, NG_056586.1:g.397del, NG_056586.1:g.397dup, NG_056586.1:g.396_397dup, NG_056586.1:g.395_397dup, NG_056586.1:g.394_397dup, NG_056586.1:g.393_397dup
                  9.

                  rs1490973684 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:52040781 (GRCh38)
                    12:52434565 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:52040780:C:T
                    Gene:
                    NR4A1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant,genic_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:
                    10.

                    rs1490971818 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      12:52041793 (GRCh38)
                      12:52435577 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:52041792:C:G
                      Gene:
                      NR4A1 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      HGVS:
                      11.

                      rs1490909088 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        12:52054174 (GRCh38)
                        12:52447958 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:52054173:A:G
                        Gene:
                        NR4A1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000015/4 (TOPMED)
                        G=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1490662619 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          12:52048861 (GRCh38)
                          12:52442645 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:52048860:G:T
                          Gene:
                          NR4A1 (Varview), LOC107984510 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_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:
                          13.

                          rs1490425434 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            12:52033638 (GRCh38)
                            12:52427422 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:52033637:T:C
                            Gene:
                            NR4A1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490398369 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              12:52028952 (GRCh38)
                              12:52422736 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:52028951:C:T
                              Gene:
                              NR4A1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1490312307 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                12:52034639 (GRCh38)
                                12:52428423 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:52034638:A:G
                                Gene:
                                NR4A1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000014/2 (GnomAD)
                                G=0.00003/8 (TOPMED)
                                HGVS:
                                16.

                                rs1490301386 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  12:52032560 (GRCh38)
                                  12:52426344 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:52032559:T:G
                                  Gene:
                                  NR4A1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1490261891 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->C [Show Flanks]
                                    Chromosome:
                                    12:52020925 (GRCh38)
                                    12:52414710 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:52020925:CCCC:CCCCC
                                    Gene:
                                    NR4A1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    CCCCC=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000656/11 (TOMMO)
                                    C=0.001092/2 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1490247140 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      12:52035225 (GRCh38)
                                      12:52429009 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:52035224:A:C,NC_000012.12:52035224:A:G
                                      Gene:
                                      NR4A1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490151142 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        A>- [Show Flanks]
                                        Chromosome:
                                        12:52041275 (GRCh38)
                                        12:52435059 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:52041274:A:
                                        Gene:
                                        NR4A1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0.000071/1 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490137875 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          12:52026459 (GRCh38)
                                          12:52420243 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:52026458:C:G
                                          Gene:
                                          NR4A1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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