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Items: 1 to 20 of 15588

1.

rs1491539156 has merged into rs138858 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAAA>AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
    Chromosome:
    22:49806999
    Gene:
    BRD1 (GeneView)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by cluster
    Global MAF:
    -=0.2029/782 (ALSPAC)
    -=0.2069/767 (TWINSUK)
    HGVS:
    NC_000022.11:g.49807012_49807014delAAA, NC_000022.11:g.49807013_49807014delAA, NC_000022.11:g.49807014delA, NC_000022.11:g.49807014dup, NC_000022.11:g.49807013_49807014dup, NC_000022.10:g.50200660_50200662delAAA, NC_000022.10:g.50200661_50200662delAA, NC_000022.10:g.50200662delA, NC_000022.10:g.50200662dup, NC_000022.10:g.50200661_50200662dup
    2.

    rs1491536853 has merged into rs374572699 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTTTTTT>TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
      Chromosome:
      22:49812105
      Gene:
      BRD1 (GeneView)
      Functional Consequence:
      intron_variant
      Validated:
      by cluster
      HGVS:
      NC_000022.11:g.49812121_49812123delTTT, NC_000022.11:g.49812122_49812123delTT, NC_000022.11:g.49812123delT, NC_000022.11:g.49812123dup, NC_000022.11:g.49812122_49812123dup, NC_000022.10:g.50205769_50205771delTTT, NC_000022.10:g.50205770_50205771delTT, NC_000022.10:g.50205771delT, NC_000022.10:g.50205771dup, NC_000022.10:g.50205770_50205771dup
      3.

      rs1491444215 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>-
        Chromosome:
        22:49806998
        Gene:
        BRD1 (GeneView)
        Functional Consequence:
        intron_variant
        HGVS:
        NC_000022.11:g.49806998_49806999delCA, NC_000022.10:g.50200646_50200647delCA
        4.

        rs1491429825 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C
          Chromosome:
          22:49812106
          Gene:
          BRD1 (GeneView)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency
          Global MAF:
          C=0.0000/0 (GnomAD)
          HGVS:
          NC_000022.11:g.49812105_49812106insC, NC_000022.10:g.50205753_50205754insC
          5.

          rs1491232323 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G,T
            Chromosome:
            22:49787304
            Gene:
            BRD1 (GeneView)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            Global MAF:
            G=0.0000/1 (TOPMED)
            HGVS:
            NC_000022.11:g.49787303_49787304insG, NC_000022.11:g.49787303_49787304insT, NC_000022.10:g.50180951_50180952insG, NC_000022.10:g.50180951_50180952insT
            6.

            rs1491076745 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CGC>C
              Chromosome:
              22:49775824
              Gene:
              BRD1 (GeneView)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by cluster
              HGVS:
              NC_000022.11:g.49775825_49775826delGC, NC_000022.10:g.50169473_50169474delGC
              7.

              rs1490999905 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T
                Chromosome:
                22:49785386
                Gene:
                BRD1 (GeneView)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by cluster
                Global MAF:
                T=0.0000/1 (GnomAD)
                T=0.0000/1 (TOPMED)
                HGVS:
                NC_000022.11:g.49785386C>T, NC_000022.10:g.50179034C>T
                8.

                rs1490888014 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T
                  Chromosome:
                  22:49821057
                  Gene:
                  BRD1 (GeneView)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency
                  Global MAF:
                  T=0.0000/6 (TOPMED)
                  HGVS:
                  NC_000022.11:g.49821057A>T, NC_000022.10:g.50214705A>T
                  9.

                  rs1490847708 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A
                    Chromosome:
                    22:49776652
                    Gene:
                    BRD1 (GeneView)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency
                    Global MAF:
                    A=0.0000/1 (TOPMED)
                    HGVS:
                    NC_000022.11:g.49776652G>A, NC_000022.10:g.50170300G>A
                    10.

                    rs1490794367 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A
                      Chromosome:
                      22:49781902
                      Gene:
                      BRD1 (GeneView)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
                      Validated:
                      by frequency
                      Global MAF:
                      A=0.0000/1 (TOPMED)
                      HGVS:
                      NC_000022.11:g.49781902G>A, NC_000022.10:g.50175550G>A, XM_017028719.1:c.*2058C>T, XR_001755193.1:n.4886C>T, XM_017028721.1:c.*2027C>T, XR_001755194.1:n.4800C>T
                      11.

                      rs1490787581 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C
                        Chromosome:
                        22:49827634
                        Gene:
                        BRD1 (GeneView)
                        Functional Consequence:
                        genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
                        Validated:
                        by frequency
                        Global MAF:
                        C=0.0000/1 (TOPMED)
                        HGVS:
                        NC_000022.11:g.49827634G>C, NC_000022.10:g.50221282G>C, NM_001304808.2:c.-152C>G
                        12.

                        rs1490787252 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A
                          Chromosome:
                          22:49802266
                          Gene:
                          BRD1 (GeneView)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by cluster
                          HGVS:
                          NC_000022.11:g.49802266C>A, NC_000022.10:g.50195914C>A
                          13.

                          rs1490703164 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GTGACAGAGTGA>GTGA
                            Chromosome:
                            22:49813806
                            Gene:
                            BRD1 (GeneView)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency
                            Global MAF:
                            -=0.0000/1 (TOPMED)
                            HGVS:
                            NC_000022.11:g.49813810_49813817delCAGAGTGA, NC_000022.10:g.50207458_50207465delCAGAGTGA
                            14.

                            rs1490564008 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C
                              Chromosome:
                              22:49782575
                              Gene:
                              BRD1 (GeneView)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
                              Validated:
                              by frequency
                              Global MAF:
                              C=0.0000/1 (TOPMED)
                              HGVS:
                              NC_000022.11:g.49782575T>C, NC_000022.10:g.50176223T>C, XM_017028719.1:c.*1385A>G, XR_001755193.1:n.4276A>G, XM_017028721.1:c.*1354A>G
                              15.

                              rs1490524551 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->AGGCACT
                                Chromosome:
                                22:49815800
                                Gene:
                                BRD1 (GeneView)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by cluster
                                Global MAF:
                                AGGCACT=0.0001/15 (TOPMED)
                                AGGCACT=0.0001/3 (GnomAD)
                                HGVS:
                                NC_000022.11:g.49815799_49815800insAGGCACT, NC_000022.10:g.50209447_50209448insAGGCACT
                                16.

                                rs1490516935 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C
                                  Chromosome:
                                  22:49795065
                                  Gene:
                                  BRD1 (GeneView)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  Global MAF:
                                  C=0.0000/1 (TOPMED)
                                  HGVS:
                                  NC_000022.11:g.49795065T>C, NC_000022.10:g.50188713T>C
                                  17.

                                  rs1490456646 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    T>TAAT
                                    Chromosome:
                                    22:49786326
                                    Gene:
                                    BRD1 (GeneView)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    Global MAF:
                                    TAA=0.0000/1 (TOPMED)
                                    TAA=0.0001/2 (GnomAD)
                                    HGVS:
                                    NC_000022.11:g.49786326_49786327insAAT, NC_000022.10:g.50179974_50179975insAAT
                                    18.

                                    rs1490404290 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C
                                      Chromosome:
                                      22:49821454
                                      Gene:
                                      BRD1 (GeneView)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency
                                      Global MAF:
                                      C=0.0000/1 (TOPMED)
                                      HGVS:
                                      NC_000022.11:g.49821454G>C, NC_000022.10:g.50215102G>C
                                      19.

                                      rs1490403816 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T
                                        Chromosome:
                                        22:49775365
                                        Gene:
                                        BRD1 (GeneView)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        Global MAF:
                                        T=0.0000/3 (TOPMED)
                                        HGVS:
                                        NC_000022.11:g.49775365C>T, NC_000022.10:g.50169013C>T
                                        20.

                                        rs1490355576 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T
                                          Chromosome:
                                          22:49776951
                                          Gene:
                                          BRD1 (GeneView)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          Global MAF:
                                          T=0.0000/3 (TOPMED)
                                          HGVS:
                                          NC_000022.11:g.49776951C>T, NC_000022.10:g.50170599C>T

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