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Items: 1 to 20 of 4462

1.

rs1491024822 has merged into rs753636704 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GC>-,GCGC [Show Flanks]
    Chromosome:
    11:60786189 (GRCh38)
    11:60553662 (GRCh37)
    Canonical SPDI:
    NC_000011.10:60786187:CGC:C,NC_000011.10:60786187:CGC:CGCGC
    Gene:
    MS4A10 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CGCGC=0./0 (ALFA)
    CG=0.03749/139 (TWINSUK)
    CG=0.04152/160 (ALSPAC)
    HGVS:
    2.

    rs1490788880 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      11:60783965 (GRCh38)
      11:60551438 (GRCh37)
      Canonical SPDI:
      NC_000011.10:60783964:GG:G
      Gene:
      MS4A10 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GG=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      -=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1490658747 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:60798982 (GRCh38)
        11:60566455 (GRCh37)
        Canonical SPDI:
        NC_000011.10:60798981:C:T
        Gene:
        MS4A10 (Varview), LOC105369322 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490625915 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          11:60783608 (GRCh38)
          11:60551081 (GRCh37)
          Canonical SPDI:
          NC_000011.10:60783607:A:T
          Gene:
          MS4A10 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1490599446 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TG>- [Show Flanks]
            Chromosome:
            11:60784428 (GRCh38)
            11:60551901 (GRCh37)
            Canonical SPDI:
            NC_000011.10:60784427:TG:
            Gene:
            MS4A10 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.001096/13 (ALFA)
            -=0.000201/23 (GnomAD)
            -=0.006197/104 (TOMMO)
            HGVS:
            6.

            rs1490270917 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              11:60789300 (GRCh38)
              11:60556773 (GRCh37)
              Canonical SPDI:
              NC_000011.10:60789299:A:C
              Gene:
              MS4A10 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1490264556 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:60791522 (GRCh38)
                11:60558995 (GRCh37)
                Canonical SPDI:
                NC_000011.10:60791521:G:A
                Gene:
                MS4A10 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0./0 (KOREAN)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490051424 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  11:60800706 (GRCh38)
                  11:60568179 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:60800705:G:C
                  Gene:
                  MS4A10 (Varview), LOC105369322 (Varview)
                  Functional Consequence:
                  intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1489871397 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    11:60800280 (GRCh38)
                    11:60567753 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:60800279:A:G,NC_000011.10:60800279:A:T
                    Gene:
                    MS4A10 (Varview), LOC105369322 (Varview)
                    Functional Consequence:
                    intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1489754655 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:60797569 (GRCh38)
                      11:60565042 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:60797568:C:T
                      Gene:
                      MS4A10 (Varview), LOC105369322 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489672021 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        11:60793286 (GRCh38)
                        11:60560759 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:60793285:T:C
                        Gene:
                        MS4A10 (Varview), LOC105369322 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1489662334 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:60794346 (GRCh38)
                          11:60561819 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:60794345:C:T
                          Gene:
                          MS4A10 (Varview), LOC105369322 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000029/4 (GnomAD)
                          T=0.000038/10 (TOPMED)
                          HGVS:
                          13.

                          rs1489422194 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            11:60801780 (GRCh38)
                            11:60569253 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:60801779:TTTTT:TTTT
                            Gene:
                            MS4A10 (Varview), LOC105369322 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTT=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            -=0.000312/2 (1000Genomes)
                            HGVS:
                            14.

                            rs1489403590 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              11:60796144 (GRCh38)
                              11:60563617 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:60796143:G:T
                              Gene:
                              MS4A10 (Varview), LOC105369322 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000019/5 (TOPMED)
                              T=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1489338667 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                11:60798292 (GRCh38)
                                11:60565765 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:60798291:T:C
                                Gene:
                                MS4A10 (Varview), LOC105369322 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489330831 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:60800950 (GRCh38)
                                  11:60568423 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:60800949:C:T
                                  Gene:
                                  MS4A10 (Varview), LOC105369322 (Varview)
                                  Functional Consequence:
                                  intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000023/6 (TOPMED)
                                  T=0.000156/1 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1489266618 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:60797522 (GRCh38)
                                    11:60564995 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:60797521:G:A
                                    Gene:
                                    MS4A10 (Varview), LOC105369322 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489043398 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:60793702 (GRCh38)
                                      11:60561175 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:60793701:T:C
                                      Gene:
                                      MS4A10 (Varview), LOC105369322 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1489001521 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:60798051 (GRCh38)
                                        11:60565524 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:60798050:G:A
                                        Gene:
                                        MS4A10 (Varview), LOC105369322 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488713223 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:60793154 (GRCh38)
                                          11:60560627 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:60793153:G:A
                                          Gene:
                                          MS4A10 (Varview), LOC105369322 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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