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Items: 1 to 20 of 4893

1.

rs1491424903 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    19:44741262 (GRCh38)
    19:45244519 (GRCh37)
    Canonical SPDI:
    NC_000019.10:44741261:CA:
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491396703 has merged into rs34390099 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
      Chromosome:
      19:44749294 (GRCh38)
      19:45252551 (GRCh37)
      Canonical SPDI:
      NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG
      Gene:
      BCL3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGGGGGGG=0./0 (ALFA)
      G=0.0056/28 (1000Genomes)
      HGVS:
      3.

      rs1491080641 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        19:44759719 (GRCh38)
        19:45262976 (GRCh37)
        Canonical SPDI:
        NC_000019.10:44759718:CA:
        Gene:
        BCL3 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1490906280 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          19:44759199 (GRCh38)
          19:45262456 (GRCh37)
          Canonical SPDI:
          NC_000019.10:44759198:G:C
          Gene:
          BCL3 (Varview), MIR8085 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
          Validated:
          by frequency
          MAF:
          C=0.00067/14 (TOMMO)
          HGVS:
          5.

          rs1490805114 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:44743809 (GRCh38)
            19:45247066 (GRCh37)
            Canonical SPDI:
            NC_000019.10:44743808:C:T
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000108/2 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000014/2 (GnomAD)
            T=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1490774181 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              19:44753851 (GRCh38)
              19:45257108 (GRCh37)
              Canonical SPDI:
              NC_000019.10:44753850:A:C,NC_000019.10:44753850:A:G
              Gene:
              BCL3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              C=0.000015/2 (GnomAD)
              HGVS:
              7.

              rs1490608684 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:44753599 (GRCh38)
                19:45256856 (GRCh37)
                Canonical SPDI:
                NC_000019.10:44753598:G:A
                Gene:
                BCL3 (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:
                8.

                rs1490549683 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  19:44741865 (GRCh38)
                  19:45245122 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:44741864:C:G
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000447/2 (ALFA)
                  G=0.000014/2 (GnomAD)
                  G=0.000446/2 (Estonian)
                  HGVS:
                  9.

                  rs1490410650 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:44760113 (GRCh38)
                    19:45263370 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:44760112:C:T
                    Gene:
                    BCL3 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000108/2 (ALFA)
                    T=0.000008/2 (TOPMED)
                    T=0.000043/6 (GnomAD)
                    T=0.000446/2 (Estonian)
                    HGVS:
                    10.

                    rs1490316781 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      19:44742781 (GRCh38)
                      19:45246038 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:44742780:C:A,NC_000019.10:44742780:C:T
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490014821 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:44758694 (GRCh38)
                        19:45261951 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:44758693:G:A
                        Gene:
                        BCL3 (Varview), MIR8085 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1489950948 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:44754807 (GRCh38)
                          19:45258064 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:44754806:C:T
                          Gene:
                          BCL3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000066/1 (ALFA)
                          T=0.000014/2 (GnomAD)
                          T=0.000223/1 (Estonian)
                          HGVS:
                          13.

                          rs1489806870 has merged into rs3138632 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA [Show Flanks]
                            Chromosome:
                            19:44752091 (GRCh38)
                            19:45255348 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA
                            Gene:
                            BCL3 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CACACACACACA=0./0 (ALFA)
                            HGVS:
                            NC_000019.10:g.44752079CA[6], NC_000019.10:g.44752079CA[7], NC_000019.10:g.44752079CA[9], NC_000019.10:g.44752079CA[10], NC_000019.10:g.44752079CA[11], NC_000019.10:g.44752079CA[12], NC_000019.10:g.44752079CA[13], NC_000019.10:g.44752079CA[14], NC_000019.10:g.44752079CA[15], NC_000019.10:g.44752079CA[17], NC_000019.10:g.44752079CA[18], NC_000019.10:g.44752079CA[19], NC_000019.10:g.44752079CA[20], NC_000019.9:g.45255336CA[6], NC_000019.9:g.45255336CA[7], NC_000019.9:g.45255336CA[9], NC_000019.9:g.45255336CA[10], NC_000019.9:g.45255336CA[11], NC_000019.9:g.45255336CA[12], NC_000019.9:g.45255336CA[13], NC_000019.9:g.45255336CA[14], NC_000019.9:g.45255336CA[15], NC_000019.9:g.45255336CA[17], NC_000019.9:g.45255336CA[18], NC_000019.9:g.45255336CA[19], NC_000019.9:g.45255336CA[20], NG_052809.1:g.14459CA[6], NG_052809.1:g.14459CA[7], NG_052809.1:g.14459CA[9], NG_052809.1:g.14459CA[10], NG_052809.1:g.14459CA[11], NG_052809.1:g.14459CA[12], NG_052809.1:g.14459CA[13], NG_052809.1:g.14459CA[14], NG_052809.1:g.14459CA[15], NG_052809.1:g.14459CA[17], NG_052809.1:g.14459CA[18], NG_052809.1:g.14459CA[19], NG_052809.1:g.14459CA[20]
                            14.

                            rs1489585938 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:44746296 (GRCh38)
                              19:45249553 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:44746295:C:T
                              Gene:
                              BCL3 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000051/7 (GnomAD)
                              T=0.000989/17 (TOMMO)
                              T=0.001092/2 (Korea1K)
                              T=0.001718/11 (1000Genomes)
                              HGVS:
                              15.

                              rs1489495730 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                19:44748589 (GRCh38)
                                19:45251846 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:44748588:C:A,NC_000019.10:44748588:C:T
                                Gene:
                                BCL3 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000022/3 (GnomAD)
                                HGVS:
                                16.

                                rs1489032227 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  19:44760247 (GRCh38)
                                  19:45263504 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:44760246:A:G
                                  Gene:
                                  BCL3 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488901387 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    19:44758048 (GRCh38)
                                    19:45261305 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:44758047:G:C
                                    Gene:
                                    BCL3 (Varview), MIR8085 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488810747 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      19:44755469 (GRCh38)
                                      19:45258726 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:44755468:T:G
                                      Gene:
                                      BCL3 (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:
                                      19.

                                      rs1488687591 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GACCTCAGCCCCTCCTCCCTCA>- [Show Flanks]
                                        Chromosome:
                                        19:44759169 (GRCh38)
                                        19:45262426 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:44759155:CCCTCCTCCCTCAGACCTCAGCCCCTCCTCCCTCA:CCCTCCTCCCTCA
                                        Gene:
                                        BCL3 (Varview), MIR8085 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CCCTCCTCCCTCA=0./0 (ALFA)
                                        -=0.00002/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1488650341 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          19:44744813 (GRCh38)
                                          19:45248070 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:44744812:T:C
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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