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Links from Gene

Items: 1 to 20 of 583

1.

rs1489186207 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    7:136903323 (GRCh38)
    7:136588070 (GRCh37)
    Canonical SPDI:
    NC_000007.14:136903322:G:T
    Gene:
    CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
    HGVS:
    2.

    rs1489077049 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ATAA>- [Show Flanks]
      Chromosome:
      7:136903675 (GRCh38)
      7:136588422 (GRCh37)
      Canonical SPDI:
      NC_000007.14:136903671:TAAATAA:TAA
      Gene:
      CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      TAA=0./0 (ALFA)
      -=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1488822420 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        7:136902742 (GRCh38)
        7:136587489 (GRCh37)
        Canonical SPDI:
        NC_000007.14:136902741:C:G
        Gene:
        CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_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:
        4.

        rs1487579059 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          T>- [Show Flanks]
          Chromosome:
          7:136902929 (GRCh38)
          7:136587676 (GRCh37)
          Canonical SPDI:
          NC_000007.14:136902928:TT:T
          Gene:
          CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TT=0./0 (ALFA)
          -=0.000011/3 (TOPMED)
          -=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1487105678 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            7:136901495 (GRCh38)
            7:136586242 (GRCh37)
            Canonical SPDI:
            NC_000007.14:136901494:C:G
            Gene:
            CHRM2 (Varview), LOC349160 (Varview), MIR490 (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=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1485573803 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              7:136902825 (GRCh38)
              7:136587572 (GRCh37)
              Canonical SPDI:
              NC_000007.14:136902824:A:G
              Gene:
              CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs1484112576 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                7:136902091 (GRCh38)
                7:136586838 (GRCh37)
                Canonical SPDI:
                NC_000007.14:136902090:T:C
                Gene:
                CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1483183827 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  7:136903568 (GRCh38)
                  7:136588315 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:136903567:A:G
                  Gene:
                  CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  G=0.000212/4 (TOMMO)
                  HGVS:
                  9.

                  rs1483132193 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    7:136902445 (GRCh38)
                    7:136587192 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:136902444:T:A
                    Gene:
                    CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1482490518 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      7:136901604 (GRCh38)
                      7:136586351 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:136901603:T:C
                      Gene:
                      CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0.000071/1 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1481902968 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        7:136903090 (GRCh38)
                        7:136587837 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:136903089:A:T
                        Gene:
                        CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000347/5 (ALFA)
                        T=0.000072/19 (TOPMED)
                        T=0.000193/27 (GnomAD)
                        HGVS:
                        12.

                        rs1478713232 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ATTT>- [Show Flanks]
                          Chromosome:
                          7:136903543 (GRCh38)
                          7:136588290 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:136903541:TATTT:T
                          Gene:
                          CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1478496224 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            7:136903400 (GRCh38)
                            7:136588147 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:136903399:C:A,NC_000007.14:136903399:C:G
                            Gene:
                            CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1476783997 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              T>- [Show Flanks]
                              Chromosome:
                              7:136903721 (GRCh38)
                              7:136588468 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:136903720:TTT:TT
                              Gene:
                              CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1474730272 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:136903446 (GRCh38)
                                7:136588193 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:136903445:A:G
                                Gene:
                                CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_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:
                                16.

                                rs1473598277 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AT>- [Show Flanks]
                                  Chromosome:
                                  7:136902193 (GRCh38)
                                  7:136586940 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:136902191:TAT:T
                                  Gene:
                                  CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1472663958 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    7:136903689 (GRCh38)
                                    7:136588436 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:136903688:G:A
                                    Gene:
                                    CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1472551161 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      7:136901255 (GRCh38)
                                      7:136586002 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:136901254:G:A
                                      Gene:
                                      CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_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:
                                      19.

                                      rs1471973594 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        7:136901665 (GRCh38)
                                        7:136586412 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:136901664:A:G
                                        Gene:
                                        CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1470810983 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          7:136901599 (GRCh38)
                                          7:136586346 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:136901598:T:C
                                          Gene:
                                          CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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