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Links from Gene

Items: 1 to 20 of 1286

1.

rs1491549148 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    11:111512396 (GRCh38)
    11:111383122 (GRCh37)
    Canonical SPDI:
    NC_000011.10:111512396:T:TT
    Gene:
    BTG4 (Varview), MIR34B (Varview), MIR34C (Varview), MIR34BHG (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    TT=0./0 (ALFA)
    HGVS:
    2.

    rs1491099667 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      11:111512396 (GRCh38)
      11:111383121 (GRCh37)
      Canonical SPDI:
      NC_000011.10:111512395:AT:
      Gene:
      BTG4 (Varview), MIR34B (Varview), MIR34C (Varview), MIR34BHG (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00201/9 (ALFA)
      -=0.00057/16 (TOMMO)
      HGVS:
      3.

      rs1490769804 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        11:111509426 (GRCh38)
        11:111380151 (GRCh37)
        Canonical SPDI:
        NC_000011.10:111509425:A:T
        Gene:
        BTG4 (Varview), MIR34BHG (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490516008 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:111512856 (GRCh38)
          11:111383581 (GRCh37)
          Canonical SPDI:
          NC_000011.10:111512855:C:T
          Gene:
          BTG4 (Varview), HOATZ (Varview), MIR34B (Varview), MIR34C (Varview), MIR34BHG (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490484996 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            11:111513731 (GRCh38)
            11:111384456 (GRCh37)
            Canonical SPDI:
            NC_000011.10:111513730:T:C
            Gene:
            BTG4 (Varview), HOATZ (Varview), MIR34C (Varview), MIR34BHG (Varview)
            Functional Consequence:
            upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490279625 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              11:111510470 (GRCh38)
              11:111381195 (GRCh37)
              Canonical SPDI:
              NC_000011.10:111510469:T:A
              Gene:
              BTG4 (Varview), MIR34BHG (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490213872 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:111510796 (GRCh38)
                11:111381521 (GRCh37)
                Canonical SPDI:
                NC_000011.10:111510795:G:A
                Gene:
                BTG4 (Varview), MIR34BHG (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1490207469 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  11:111512671 (GRCh38)
                  11:111383396 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:111512670:C:G,NC_000011.10:111512670:C:T
                  Gene:
                  BTG4 (Varview), MIR34B (Varview), MIR34C (Varview), MIR34BHG (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489735332 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:111513257 (GRCh38)
                    11:111383982 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:111513256:G:A
                    Gene:
                    BTG4 (Varview), HOATZ (Varview), MIR34B (Varview), MIR34C (Varview), MIR34BHG (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1489652880 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:111511424 (GRCh38)
                      11:111382149 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:111511423:T:C
                      Gene:
                      BTG4 (Varview), MIR34B (Varview), MIR34BHG (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000023/6 (TOPMED)
                      C=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1489598808 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:111512456 (GRCh38)
                        11:111383181 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:111512455:A:G
                        Gene:
                        BTG4 (Varview), MIR34B (Varview), MIR34C (Varview), MIR34BHG (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1488950293 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:111511547 (GRCh38)
                          11:111382272 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:111511546:G:A
                          Gene:
                          BTG4 (Varview), MIR34B (Varview), MIR34C (Varview), MIR34BHG (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487367613 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:111509877 (GRCh38)
                            11:111380602 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:111509876:T:C
                            Gene:
                            BTG4 (Varview), MIR34BHG (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1487326128 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:111510168 (GRCh38)
                              11:111380893 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:111510167:C:T
                              Gene:
                              BTG4 (Varview), MIR34BHG (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000014/2 (GnomAD)
                              T=0.000023/6 (TOPMED)
                              HGVS:
                              15.

                              rs1486879100 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:111510842 (GRCh38)
                                11:111381567 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:111510841:C:T
                                Gene:
                                BTG4 (Varview), MIR34BHG (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1486696383 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  11:111508922 (GRCh38)
                                  11:111379647 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:111508921:G:T
                                  Gene:
                                  BTG4 (Varview), MIR34BHG (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486670298 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:111509282 (GRCh38)
                                    11:111380007 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:111509281:C:T
                                    Gene:
                                    BTG4 (Varview), MIR34BHG (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_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:
                                    18.

                                    rs1484817069 [Homo sapiens]
                                      Variant type:
                                      INS
                                      Alleles:
                                      ->C [Show Flanks]
                                      Chromosome:
                                      11:111509699 (GRCh38)
                                      11:111380425 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:111509699::C
                                      Gene:
                                      BTG4 (Varview), MIR34BHG (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1484447501 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:111512453 (GRCh38)
                                        11:111383178 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:111512452:C:T
                                        Gene:
                                        BTG4 (Varview), MIR34B (Varview), MIR34C (Varview), MIR34BHG (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1484267656 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          11:111509943 (GRCh38)
                                          11:111380668 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:111509942:G:A,NC_000011.10:111509942:G:T
                                          Gene:
                                          BTG4 (Varview), MIR34BHG (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.00005/5 (GnomAD)
                                          T=0.00131/37 (TOMMO)
                                          T=0.02572/75 (KOREAN)
                                          HGVS:

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