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Links from Gene

Items: 1 to 20 of 4734

1.

rs1491552366 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    3:9741481 (GRCh38)
    3:9783165 (GRCh37)
    Canonical SPDI:
    NC_000003.12:9741479:ACA:A
    Gene:
    BRPF1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000011/2 (GnomAD_exomes)
    -=0.000018/2 (ExAC)
    -=0.000725/9 (GoESP)
    HGVS:
    2.

    rs1491003050 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      3:9743544 (GRCh38)
      3:9785228 (GRCh37)
      Canonical SPDI:
      NC_000003.12:9743543:G:T
      Gene:
      BRPF1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490753020 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        3:9744058 (GRCh38)
        3:9785742 (GRCh37)
        Canonical SPDI:
        NC_000003.12:9744057:C:A,NC_000003.12:9744057:C:G
        Gene:
        BRPF1 (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)
        A=0.000342/1 (KOREAN)
        HGVS:
        4.

        rs1490742681 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          ->TGTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1490626017 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            3:9735659 (GRCh38)
            3:9777343 (GRCh37)
            Canonical SPDI:
            NC_000003.12:9735658:T:A
            Gene:
            BRPF1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490577521 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:9736035 (GRCh38)
              3:9777719 (GRCh37)
              Canonical SPDI:
              NC_000003.12:9736034:G:A
              Gene:
              BRPF1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.00085/4 (GnomAD)
              HGVS:
              7.

              rs1490524194 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:9736385 (GRCh38)
                3:9778069 (GRCh37)
                Canonical SPDI:
                NC_000003.12:9736384:T:C
                Gene:
                BRPF1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490338297 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  3:9736285 (GRCh38)
                  3:9777969 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:9736284:C:A
                  Gene:
                  BRPF1 (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:
                  9.

                  rs1489621133 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:9736860 (GRCh38)
                    3:9778544 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:9736859:A:G
                    Gene:
                    BRPF1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000014/2 (GnomAD)
                    G=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1489611486 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:9734040 (GRCh38)
                      3:9775724 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:9734039:G:A
                      Gene:
                      BRPF1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1489469863 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        3:9741281 (GRCh38)
                        3:9782965 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:9741280:C:T
                        Gene:
                        BRPF1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.000005/1 (GnomAD_exomes)
                        T=0.00006/1 (TOMMO)
                        HGVS:
                        12.

                        rs1489405378 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          3:9730958 (GRCh38)
                          3:9772642 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:9730957:T:C
                          Gene:
                          BRPF1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1489203610 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:9732683 (GRCh38)
                            3:9774367 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:9732682:C:T
                            Gene:
                            BRPF1 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,5_prime_UTR_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:
                            14.

                            rs1488870861 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              3:9746028 (GRCh38)
                              3:9787712 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:9746027:G:C
                              Gene:
                              BRPF1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000014/2 (GnomAD)
                              C=0.00003/8 (TOPMED)
                              HGVS:
                              15.

                              rs1488442031 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                3:9744944 (GRCh38)
                                3:9786628 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:9744943:A:G,NC_000003.12:9744943:A:T
                                Gene:
                                BRPF1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1488407485 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:9730949 (GRCh38)
                                  3:9772633 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:9730948:C:T
                                  Gene:
                                  BRPF1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000019/5 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1487778326 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    3:9733331 (GRCh38)
                                    3:9775015 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:9733330:T:G
                                    Gene:
                                    BRPF1 (Varview)
                                    Functional Consequence:
                                    intron_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:

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