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Items: 1 to 20 of 2994

1.

rs1491582328 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    19:40848940 (GRCh38)
    19:41354845 (GRCh37)
    Canonical SPDI:
    NC_000019.10:40848939:TA:
    Gene:
    CYP2A6 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.00051/6 (ALFA)
    -=0.00002/1 (GnomAD)
    HGVS:

    2.

    rs1491511682 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->G,GAG,GAGAG,GAGAGAG,GAGAGG,GAGG,GG,GGG [Show Flanks]
      Chromosome:
      19:40848977 (GRCh38)
      19:41354883 (GRCh37)
      Canonical SPDI:
      NC_000019.10:40848977::G,NC_000019.10:40848977::GAG,NC_000019.10:40848977::GAGAG,NC_000019.10:40848977::GAGAGAG,NC_000019.10:40848977::GAGAGG,NC_000019.10:40848977::GAGG,NC_000019.10:40848977::GG,NC_000019.10:40848977::GGG
      Gene:
      CYP2A6 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAG=0./0 (ALFA)
      GAGAGG=0.00006/1 (TOMMO)
      HGVS:
      NC_000019.10:g.40848977_40848978insG, NC_000019.10:g.40848977_40848978insGAG, NC_000019.10:g.40848977_40848978insGAGAG, NC_000019.10:g.40848977_40848978insGAGAGAG, NC_000019.10:g.40848977_40848978insGAGAGG, NC_000019.10:g.40848977_40848978insGAGG, NC_000019.10:g.40848977_40848978insGG, NC_000019.10:g.40848977_40848978insGGG, NC_000019.9:g.41354882_41354883insG, NC_000019.9:g.41354882_41354883insGAG, NC_000019.9:g.41354882_41354883insGAGAG, NC_000019.9:g.41354882_41354883insGAGAGAG, NC_000019.9:g.41354882_41354883insGAGAGG, NC_000019.9:g.41354882_41354883insGAGG, NC_000019.9:g.41354882_41354883insGG, NC_000019.9:g.41354882_41354883insGGG, NG_008377.1:g.6470_6471insC, NG_008377.1:g.6470_6471insCTC, NG_008377.1:g.6470_6471insCTCTC, NG_008377.1:g.6470_6471insCTCTCTC, NG_008377.1:g.6470_6471insCCTCTC, NG_008377.1:g.6470_6471insCCTC, NG_008377.1:g.6470_6471insCC, NG_008377.1:g.6470_6471insCCC

      3.

      rs1491372166 has merged into rs67032351 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GAGAGAGAGAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
        Chromosome:
        19:40848958 (GRCh38)
        19:41354863 (GRCh37)
        Canonical SPDI:
        NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40848940:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
        Gene:
        CYP2A6 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
        AGAG=0.3263/1634 (1000Genomes)
        HGVS:
        NC_000019.10:g.40848942GA[8], NC_000019.10:g.40848942GA[9], NC_000019.10:g.40848942GA[10], NC_000019.10:g.40848942GA[11], NC_000019.10:g.40848942GA[12], NC_000019.10:g.40848942GA[13], NC_000019.10:g.40848942GA[14], NC_000019.10:g.40848942GA[15], NC_000019.10:g.40848942GA[16], NC_000019.10:g.40848942GA[17], NC_000019.10:g.40848942GA[19], NC_000019.10:g.40848942GA[20], NC_000019.10:g.40848942GA[21], NC_000019.10:g.40848942GA[22], NC_000019.10:g.40848942GA[23], NC_000019.10:g.40848942GA[24], NC_000019.10:g.40848942GA[25], NC_000019.10:g.40848942GA[26], NC_000019.10:g.40848942GA[27], NC_000019.9:g.41354847GA[8], NC_000019.9:g.41354847GA[9], NC_000019.9:g.41354847GA[10], NC_000019.9:g.41354847GA[11], NC_000019.9:g.41354847GA[12], NC_000019.9:g.41354847GA[13], NC_000019.9:g.41354847GA[14], NC_000019.9:g.41354847GA[15], NC_000019.9:g.41354847GA[16], NC_000019.9:g.41354847GA[17], NC_000019.9:g.41354847GA[19], NC_000019.9:g.41354847GA[20], NC_000019.9:g.41354847GA[21], NC_000019.9:g.41354847GA[22], NC_000019.9:g.41354847GA[23], NC_000019.9:g.41354847GA[24], NC_000019.9:g.41354847GA[25], NC_000019.9:g.41354847GA[26], NC_000019.9:g.41354847GA[27], NG_008377.1:g.6472CT[8], NG_008377.1:g.6472CT[9], NG_008377.1:g.6472CT[10], NG_008377.1:g.6472CT[11], NG_008377.1:g.6472CT[12], NG_008377.1:g.6472CT[13], NG_008377.1:g.6472CT[14], NG_008377.1:g.6472CT[15], NG_008377.1:g.6472CT[16], NG_008377.1:g.6472CT[17], NG_008377.1:g.6472CT[19], NG_008377.1:g.6472CT[20], NG_008377.1:g.6472CT[21], NG_008377.1:g.6472CT[22], NG_008377.1:g.6472CT[23], NG_008377.1:g.6472CT[24], NG_008377.1:g.6472CT[25], NG_008377.1:g.6472CT[26], NG_008377.1:g.6472CT[27]

        4.

        rs1491295586 has merged into rs1440289322 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AGAG>-,AG [Show Flanks]
          Chromosome:
          19:40849018 (GRCh38)
          19:41354923 (GRCh37)
          Canonical SPDI:
          NC_000019.10:40849011:AGAGAGAGAG:AGAGAG,NC_000019.10:40849011:AGAGAGAGAG:AGAGAGAG
          Gene:
          CYP2A6 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AGAGAGAG=0./0 (ALFA)
          -=0.00002/1 (GnomAD)
          HGVS:

          5.

          rs1491284996 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GAGAGAGAG [Show Flanks]
            Chromosome:
            19:40849012 (GRCh38)
            19:41354918 (GRCh37)
            Canonical SPDI:
            NC_000019.10:40849012:GAGAGAGAGGAGAGAGAG:GAGAGAGAGGAGAGAGAGGAGAGAGAG
            Gene:
            CYP2A6 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            GAGAGAGAGGAGAGAGAGGAGAGAGAG=0.00008/1 (ALFA)
            HGVS:

            6.

            rs1491120306 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AA>- [Show Flanks]
              Chromosome:
              19:40848977 (GRCh38)
              19:41354882 (GRCh37)
              Canonical SPDI:
              NC_000019.10:40848976:AA:
              Gene:
              CYP2A6 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.00172/143 (GnomAD)
              HGVS:

              7.

              rs1490857650 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:40846973 (GRCh38)
                19:41352878 (GRCh37)
                Canonical SPDI:
                NC_000019.10:40846972:C:T
                Gene:
                CYP2A6 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (TOPMED)
                HGVS:

                8.

                rs1490614116 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,T [Show Flanks]
                  Chromosome:
                  19:40852295 (GRCh38)
                  19:41358200 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:40852294:A:C,NC_000019.10:40852294:A:T
                  Gene:
                  CYP2A6 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1489667679 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    19:40843411 (GRCh38)
                    19:41349316 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:40843410:C:A,NC_000019.10:40843410:C:T
                    Gene:
                    CYP2A6 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    A=0.000019/5 (TOPMED)
                    HGVS:

                    10.

                    rs1489525313 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:40852427 (GRCh38)
                      19:41358332 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:40852426:C:T
                      Gene:
                      CYP2A6 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000169/2 (ALFA)
                      T=0.000114/16 (GnomAD)
                      T=0.000781/5 (1000Genomes)
                      HGVS:

                      11.

                      rs1489506736 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        19:40845490 (GRCh38)
                        19:41351395 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:40845489:G:C
                        Gene:
                        CYP2A6 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1489433424 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:40851683 (GRCh38)
                          19:41357588 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:40851682:G:A
                          Gene:
                          CYP2A6 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          HGVS:

                          13.

                          rs1489178779 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            19:40848987 (GRCh38)
                            19:41354892 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:40848986:G:A,NC_000019.10:40848986:G:C
                            Gene:
                            CYP2A6 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.00481/57 (ALFA)
                            A=0.00079/16 (TOMMO)
                            A=0.00368/309 (GnomAD)
                            A=0.00499/14 (KOREAN)
                            G=0.5/1 (SGDP_PRJ)
                            HGVS:

                            14.

                            rs1489139994 has merged into rs1164660108 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA>-,GAGA,GAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
                              Chromosome:
                              19:40849058 (GRCh38)
                              19:41354963 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40849045:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
                              Gene:
                              CYP2A6 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GAGAGAGAGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
                              HGVS:
                              NC_000019.10:g.40849046GA[6], NC_000019.10:g.40849046GA[8], NC_000019.10:g.40849046GA[9], NC_000019.10:g.40849046GA[13], NC_000019.10:g.40849046GA[14], NC_000019.10:g.40849046GA[15], NC_000019.10:g.40849046GA[16], NC_000019.10:g.40849046GA[17], NC_000019.10:g.40849046GA[18], NC_000019.10:g.40849046GA[19], NC_000019.10:g.40849046GA[20], NC_000019.10:g.40849046GA[21], NC_000019.10:g.40849046GA[23], NC_000019.10:g.40849046GA[24], NC_000019.10:g.40849046GA[25], NC_000019.10:g.40849046GA[26], NC_000019.10:g.40849046GA[27], NC_000019.10:g.40849046GA[30], NC_000019.10:g.40849046GA[31], NC_000019.10:g.40849046GA[32], NC_000019.9:g.41354951GA[6], NC_000019.9:g.41354951GA[8], NC_000019.9:g.41354951GA[9], NC_000019.9:g.41354951GA[13], NC_000019.9:g.41354951GA[14], NC_000019.9:g.41354951GA[15], NC_000019.9:g.41354951GA[16], NC_000019.9:g.41354951GA[17], NC_000019.9:g.41354951GA[18], NC_000019.9:g.41354951GA[19], NC_000019.9:g.41354951GA[20], NC_000019.9:g.41354951GA[21], NC_000019.9:g.41354951GA[23], NC_000019.9:g.41354951GA[24], NC_000019.9:g.41354951GA[25], NC_000019.9:g.41354951GA[26], NC_000019.9:g.41354951GA[27], NC_000019.9:g.41354951GA[30], NC_000019.9:g.41354951GA[31], NC_000019.9:g.41354951GA[32], NG_008377.1:g.6359TC[6], NG_008377.1:g.6359TC[8], NG_008377.1:g.6359TC[9], NG_008377.1:g.6359TC[13], NG_008377.1:g.6359TC[14], NG_008377.1:g.6359TC[15], NG_008377.1:g.6359TC[16], NG_008377.1:g.6359TC[17], NG_008377.1:g.6359TC[18], NG_008377.1:g.6359TC[19], NG_008377.1:g.6359TC[20], NG_008377.1:g.6359TC[21], NG_008377.1:g.6359TC[23], NG_008377.1:g.6359TC[24], NG_008377.1:g.6359TC[25], NG_008377.1:g.6359TC[26], NG_008377.1:g.6359TC[27], NG_008377.1:g.6359TC[30], NG_008377.1:g.6359TC[31], NG_008377.1:g.6359TC[32]

                              15.

                              rs1488959980 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:40845314 (GRCh38)
                                19:41351219 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:40845313:G:A
                                Gene:
                                CYP2A6 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (GnomAD_exomes)
                                A=0.000011/3 (TOPMED)
                                HGVS:

                                16.

                                rs1488808758 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  19:40848980 (GRCh38)
                                  19:41354885 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:40848979:A:G
                                  Gene:
                                  CYP2A6 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.005817/69 (ALFA)
                                  G=0.003057/321 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1488249963 [Homo sapiens]
                                    Variant type:
                                    SNV:
                                    Alleles:
                                    C>T
                                    Chromosome:
                                    no mapping
                                    Canonical SPDI:

                                    18.

                                    rs1487898412 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:40846001 (GRCh38)
                                      19:41351906 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:40846000:G:A
                                      Gene:
                                      CYP2A6 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1487835183 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        19:40848422 (GRCh38)
                                        19:41354327 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:40848421:T:C
                                        Gene:
                                        CYP2A6 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        C=0.000029/4 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1487624047 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          19:40847006 (GRCh38)
                                          19:41352911 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:40847005:G:C
                                          Gene:
                                          CYP2A6 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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