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Links from Gene

Items: 1 to 20 of 2897

1.

rs1491486221 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    22:42142255 (GRCh38)
    22:42538265 (GRCh37)
    Canonical SPDI:
    NC_000022.11:42142253:ACA:A
    Gene:
    CYP2D7 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000108/2 (ALFA)
    -=0.000053/14 (TOPMED)
    -=0.000114/16 (GnomAD)
    -=0.000312/2 (1000Genomes)
    HGVS:
    2.

    rs1491315987 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->AGAGTCC [Show Flanks]
      Chromosome:
      22:42142254 (GRCh38)
      22:42538265 (GRCh37)
      Canonical SPDI:
      NC_000022.11:42142254:CAGAGTCC:CAGAGTCCAGAGTCC
      Gene:
      CYP2D7 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CAGAGTCCAGAGTCC=0./0 (ALFA)
      CAGAGTC=0.000019/5 (TOPMED)
      HGVS:
      4.

      rs1490954611 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        22:42146158 (GRCh38)
        22:42542159 (GRCh37)
        Canonical SPDI:
        NC_000022.11:42146157:A:T
        Gene:
        CYP2D7 (Varview), LOC105377203 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000142/2 (ALFA)
        T=0.000014/2 (GnomAD)
        T=0.000034/9 (TOPMED)
        HGVS:
        5.

        rs1490464740 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          22:42145214 (GRCh38)
          22:42541215 (GRCh37)
          Canonical SPDI:
          NC_000022.11:42145213:C:G
          Gene:
          CYP2D7 (Varview), LOC105377203 (Varview)
          Functional Consequence:
          2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency
          MAF:
          G=0.000007/1 (GnomAD)
          HGVS:
          6.

          rs1489993996 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            22:42139130 (GRCh38)
            22:42535141 (GRCh37)
            Canonical SPDI:
            NC_000022.11:42139129:C:T
            Gene:
            CYP2D7 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000014/2 (GnomAD)
            HGVS:
            7.

            rs1489409298 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              22:42141778 (GRCh38)
              22:42537788 (GRCh37)
              Canonical SPDI:
              NC_000022.11:42141777:A:G
              Gene:
              CYP2D7 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              HGVS:
              8.

              rs1489146697 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                22:42145449 (GRCh38)
                22:42541450 (GRCh37)
                Canonical SPDI:
                NC_000022.11:42145448:G:C
                Gene:
                CYP2D7 (Varview), LOC105377203 (Varview)
                Functional Consequence:
                2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0./0 (1000Genomes)
                G=0./0 (TOMMO)
                G=0./0 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                9.

                rs1489120538 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  22:42143672 (GRCh38)
                  22:42539673 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:42143671:G:A
                  Gene:
                  CYP2D7 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000035/1 (TOMMO)
                  HGVS:
                  13.

                  rs1488552682 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    22:42146037 (GRCh38)
                    22:42542038 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:42146036:G:A
                    Gene:
                    CYP2D7 (Varview), LOC105377203 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    14.

                    rs1488087434 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      22:42144967 (GRCh38)
                      22:42540968 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:42144966:T:G
                      Gene:
                      CYP2D7 (Varview), LOC105377203 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000021/3 (GnomAD)
                      G=0.000026/7 (TOPMED)
                      HGVS:
                      15.

                      rs1487723612 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        22:42146179 (GRCh38)
                        22:42542180 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:42146178:C:T
                        Gene:
                        CYP2D7 (Varview), LOC105377203 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000042/11 (TOPMED)
                        HGVS:
                        16.

                        rs1487695294 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          22:42144484 (GRCh38)
                          22:42540485 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:42144483:G:A
                          Gene:
                          CYP2D7 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          17.

                          rs1487653763 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            22:42141647 (GRCh38)
                            22:42537657 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:42141646:T:C
                            Gene:
                            CYP2D7 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (GnomAD_exomes)
                            C=0.00003/8 (TOPMED)
                            HGVS:
                            18.

                            rs1487595017 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              22:42140020 (GRCh38)
                              22:42536031 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:42140019:T:C
                              Gene:
                              CYP2D7 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              19.

                              rs1487508178 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AG>- [Show Flanks]
                                Chromosome:
                                22:42146375 (GRCh38)
                                22:42542376 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:42146372:AGAG:AG
                                Gene:
                                CYP2D7 (Varview), LOC105377203 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AGAG=0.000071/1 (ALFA)
                                -=0.000034/9 (TOPMED)
                                -=0.000036/5 (GnomAD)
                                HGVS:
                                20.

                                rs1487471642 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  22:42140987 (GRCh38)
                                  22:42536998 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:42140986:C:A
                                  Gene:
                                  CYP2D7 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/1 (GnomAD)
                                  HGVS:

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