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Links from Gene

Items: 1 to 20 of 1097

1.

rs1490996519 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:46388253 (GRCh38)
    11:46409803 (GRCh37)
    Canonical SPDI:
    NC_000011.10:46388252:G:A
    Gene:
    CHRM4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000094/1 (ALFA)
    A=0.000011/3 (TOPMED)
    A=0.000014/2 (GnomAD)
    A=0.000566/9 (TOMMO)
    HGVS:
    2.

    rs1490979809 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:46384553 (GRCh38)
      11:46406103 (GRCh37)
      Canonical SPDI:
      NC_000011.10:46384552:G:A
      Gene:
      CHRM4 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      A=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs1490931827 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:46385579 (GRCh38)
        11:46407129 (GRCh37)
        Canonical SPDI:
        NC_000011.10:46385578:G:A
        Gene:
        CHRM4 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        A=0.000035/1 (TOMMO)
        HGVS:
        4.

        rs1489131777 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          11:46387059 (GRCh38)
          11:46408609 (GRCh37)
          Canonical SPDI:
          NC_000011.10:46387058:C:G
          Gene:
          CHRM4 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000023/6 (TOPMED)
          HGVS:
          5.

          rs1488639704 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:46388110 (GRCh38)
            11:46409660 (GRCh37)
            Canonical SPDI:
            NC_000011.10:46388109:G:A
            Gene:
            CHRM4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488045482 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              11:46386139 (GRCh38)
              11:46407689 (GRCh37)
              Canonical SPDI:
              NC_000011.10:46386138:T:A
              Gene:
              CHRM4 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.00059/7 (ALFA)
              HGVS:
              7.

              rs1487993880 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                11:46387306 (GRCh38)
                11:46408856 (GRCh37)
                Canonical SPDI:
                NC_000011.10:46387305:T:C
                Gene:
                CHRM4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1486866796 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:46384913 (GRCh38)
                  11:46406463 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:46384912:A:G
                  Gene:
                  CHRM4 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1486277588 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:46388238 (GRCh38)
                    11:46409788 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:46388237:G:A
                    Gene:
                    CHRM4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1485529370 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->T [Show Flanks]
                      Chromosome:
                      11:46387515 (GRCh38)
                      11:46409066 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:46387515:T:TT
                      Gene:
                      CHRM4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TT=0./0 (ALFA)
                      T=0.000015/4 (TOPMED)
                      T=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1483913552 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:46385862 (GRCh38)
                        11:46407412 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:46385861:C:T
                        Gene:
                        CHRM4 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        HGVS:
                        12.

                        rs1483904398 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          11:46387438 (GRCh38)
                          11:46408988 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:46387437:G:C
                          Gene:
                          CHRM4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1482338519 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            11:46388500 (GRCh38)
                            11:46410050 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:46388499:T:A
                            Gene:
                            CHRM4 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000029/4 (GnomAD)
                            HGVS:
                            14.

                            rs1481917097 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:46385703 (GRCh38)
                              11:46407253 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:46385702:G:A
                              Gene:
                              CHRM4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              HGVS:
                              15.

                              rs1481868575 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:46388189 (GRCh38)
                                11:46409739 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:46388188:C:T
                                Gene:
                                CHRM4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1480936506 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:46385403 (GRCh38)
                                  11:46406953 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:46385402:C:T
                                  Gene:
                                  CHRM4 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1480749933 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:46386126 (GRCh38)
                                    11:46407676 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:46386125:G:A
                                    Gene:
                                    CHRM4 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/1 (GnomAD)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1479187126 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      11:46386840 (GRCh38)
                                      11:46408390 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:46386839:A:C
                                      Gene:
                                      CHRM4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1478794197 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GCT>- [Show Flanks]
                                        Chromosome:
                                        11:46387180 (GRCh38)
                                        11:46408730 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:46387177:CTGCT:CT
                                        Gene:
                                        CHRM4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CT=0.000071/1 (ALFA)
                                        -=0.000023/6 (TOPMED)
                                        -=0.00005/7 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1478660806 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:46388104 (GRCh38)
                                          11:46409654 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:46388103:C:T
                                          Gene:
                                          CHRM4 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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