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Items: 1 to 20 of 1104

1.

rs1490494966 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:239898644 (GRCh38)
    1:240061944 (GRCh37)
    Canonical SPDI:
    NC_000001.11:239898643:T:C
    Gene:
    CHRM3 (Varview), CHRM3-AS1 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_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:
    2.

    rs1490469554 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      1:239897632 (GRCh38)
      1:240060933 (GRCh37)
      Canonical SPDI:
      NC_000001.11:239897632:CCC:CCCC
      Gene:
      CHRM3 (Varview), CHRM3-AS1 (Varview)
      Functional Consequence:
      intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      CCCC=0./0 (ALFA)
      HGVS:
      3.

      rs1490244893 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CTAT>- [Show Flanks]
        Chromosome:
        1:239899331 (GRCh38)
        1:240062631 (GRCh37)
        Canonical SPDI:
        NC_000001.11:239899327:TATCTAT:TAT
        Gene:
        CHRM3 (Varview), CHRM3-AS1 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        TAT=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490170523 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          1:239897761 (GRCh38)
          1:240061061 (GRCh37)
          Canonical SPDI:
          NC_000001.11:239897760:T:G
          Gene:
          CHRM3 (Varview), CHRM3-AS1 (Varview)
          Functional Consequence:
          intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489717383 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AG>- [Show Flanks]
            Chromosome:
            1:239900169 (GRCh38)
            1:240063469 (GRCh37)
            Canonical SPDI:
            NC_000001.11:239900167:GAG:G
            Gene:
            CHRM3 (Varview), CHRM3-AS1 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488682957 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:239900013 (GRCh38)
              1:240063313 (GRCh37)
              Canonical SPDI:
              NC_000001.11:239900012:G:A
              Gene:
              CHRM3 (Varview), CHRM3-AS1 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1487547282 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                1:239898023 (GRCh38)
                1:240061323 (GRCh37)
                Canonical SPDI:
                NC_000001.11:239898022:T:G
                Gene:
                CHRM3 (Varview), CHRM3-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1487546085 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  1:239899439 (GRCh38)
                  1:240062739 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:239899438:A:T
                  Gene:
                  CHRM3 (Varview), CHRM3-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_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:
                  9.

                  rs1487523023 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    1:239900700 (GRCh38)
                    1:240064000 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:239900699:C:G
                    Gene:
                    CHRM3 (Varview), CHRM3-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                    HGVS:
                    10.

                    rs1486757753 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      1:239898545 (GRCh38)
                      1:240061845 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:239898544:G:A,NC_000001.11:239898544:G:T
                      Gene:
                      CHRM3 (Varview), CHRM3-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1486711673 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:239900787 (GRCh38)
                        1:240064087 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:239900786:T:C
                        Gene:
                        CHRM3 (Varview), CHRM3-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_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:
                        12.

                        rs1485733071 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:239901181 (GRCh38)
                          1:240064481 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:239901180:G:A
                          Gene:
                          CHRM3 (Varview), CHRM3-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000014/2 (GnomAD)
                          A=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1485548126 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AGTA>- [Show Flanks]
                            Chromosome:
                            1:239899641 (GRCh38)
                            1:240062941 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:239899634:TAAGTAAGTA:TAAGTA
                            Gene:
                            CHRM3 (Varview), CHRM3-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TAAGTA=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1483503398 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              1:239900866 (GRCh38)
                              1:240064166 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:239900865:A:C
                              Gene:
                              CHRM3 (Varview), CHRM3-AS1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1482127177 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:239901598 (GRCh38)
                                1:240064898 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:239901597:T:C
                                Gene:
                                CHRM3 (Varview), CHRM3-AS1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1481660234 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  1:239898235 (GRCh38)
                                  1:240061535 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:239898234:C:G
                                  Gene:
                                  CHRM3 (Varview), CHRM3-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481255817 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    1:239898027 (GRCh38)
                                    1:240061327 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:239898026:A:C
                                    Gene:
                                    CHRM3 (Varview), CHRM3-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000029/4 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1481110898 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      1:239899151 (GRCh38)
                                      1:240062451 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:239899150:A:T
                                      Gene:
                                      CHRM3 (Varview), CHRM3-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1480674084 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        1:239898783 (GRCh38)
                                        1:240062083 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:239898782:G:C
                                        Gene:
                                        CHRM3 (Varview), CHRM3-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1480583798 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:239897931 (GRCh38)
                                          1:240061231 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:239897930:A:G
                                          Gene:
                                          CHRM3 (Varview), CHRM3-AS1 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000043/6 (GnomAD)
                                          G=0.00006/16 (TOPMED)
                                          HGVS:

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