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Items: 1 to 20 of 160

1.

rs781465218 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:60468317 (GRCh38)
    11:60235790 (GRCh37)
    Canonical SPDI:
    NC_000011.10:60468316:G:A
    Gene:
    MS4A1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000009/1 (ExAC)
    HGVS:
    2.

    rs780369025 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:60468278 (GRCh38)
      11:60235751 (GRCh37)
      Canonical SPDI:
      NC_000011.10:60468277:A:G
      Gene:
      MS4A1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0./0 (TWINSUK)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000259/1 (ALSPAC)
      HGVS:
      3.

      rs780340225 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        11:60462456 (GRCh38)
        11:60229929 (GRCh37)
        Canonical SPDI:
        NC_000011.10:60462455:A:T
        Gene:
        MS4A1 (Varview)
        Functional Consequence:
        stop_gained,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        T=0.000008/1 (ExAC)
        HGVS:
        4.

        rs780339737 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:60468307 (GRCh38)
          11:60235780 (GRCh37)
          Canonical SPDI:
          NC_000011.10:60468306:G:A
          Gene:
          MS4A1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (GnomAD_exomes)
          A=0.000009/1 (ExAC)
          A=0.000026/7 (TOPMED)
          A=0.000029/4 (GnomAD)
          HGVS:
          5.

          rs779922206 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            A>- [Show Flanks]
            Chromosome:
            11:60468275 (GRCh38)
            11:60235748 (GRCh37)
            Canonical SPDI:
            NC_000011.10:60468274:AAAAAAAA:AAAAAAA
            Gene:
            MS4A1 (Varview)
            Functional Consequence:
            coding_sequence_variant,frameshift_variant
            Validated:
            by frequency,by cluster
            MAF:
            -=0.000068/7 (ExAC)
            HGVS:
            6.

            rs779655185 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:60466141 (GRCh38)
              11:60233614 (GRCh37)
              Canonical SPDI:
              NC_000011.10:60466140:T:C
              Gene:
              MS4A1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000011/3 (TOPMED)
              C=0.000014/2 (GnomAD)
              C=0.000025/2 (PAGE_STUDY)
              C=0.000052/13 (GnomAD_exomes)
              C=0.000066/8 (ExAC)
              HGVS:
              7.

              rs779510338 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:60462438 (GRCh38)
                11:60229911 (GRCh37)
                Canonical SPDI:
                NC_000011.10:60462437:G:A
                Gene:
                MS4A1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                A=0.000008/1 (ExAC)
                HGVS:
                8.

                rs778670251 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  11:60466123 (GRCh38)
                  11:60233596 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:60466122:C:A,NC_000011.10:60466122:C:T
                  Gene:
                  MS4A1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  T=0.000008/1 (ExAC)
                  A=0.000068/18 (TOPMED)
                  A=0.0001/14 (GnomAD)
                  HGVS:
                  9.

                  rs778420018 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:60466064 (GRCh38)
                    11:60233537 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:60466063:A:G
                    Gene:
                    MS4A1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000031/1 (ALFA)
                    G=0.000008/1 (ExAC)
                    G=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs778373859 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      11:60466964 (GRCh38)
                      11:60234437 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:60466963:T:A
                      Gene:
                      MS4A1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      A=0.000008/1 (ExAC)
                      HGVS:
                      12.

                      rs777484464 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:60466051 (GRCh38)
                        11:60233524 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:60466050:G:A
                        Gene:
                        MS4A1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000008/1 (ExAC)
                        HGVS:
                        13.

                        rs777310196 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          11:60466066 (GRCh38)
                          11:60233539 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:60466065:A:G
                          Gene:
                          MS4A1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000008/1 (ExAC)
                          HGVS:
                          14.

                          rs777259260 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:60465928 (GRCh38)
                            11:60233401 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:60465927:G:A
                            Gene:
                            MS4A1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0./0 (GnomAD)
                            A=0./0 (PAGE_STUDY)
                            A=0.000004/1 (TOPMED)
                            A=0.000116/29 (GnomAD_exomes)
                            A=0.000141/17 (ExAC)
                            HGVS:
                            15.
                            16.

                            rs776326601 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              11:60463119 (GRCh38)
                              11:60230592 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:60463118:A:C
                              Gene:
                              MS4A1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.000016/4 (GnomAD_exomes)
                              C=0.000025/3 (ExAC)
                              C=0.000342/1 (KOREAN)
                              C=0.000835/14 (TOMMO)
                              HGVS:
                              17.

                              rs775765486 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:60466074 (GRCh38)
                                11:60233547 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:60466073:A:G
                                Gene:
                                MS4A1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0./0 (TWINSUK)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                G=0.000259/1 (ALSPAC)
                                HGVS:
                                18.

                                rs775670138 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  11:60467021 (GRCh38)
                                  11:60234494 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:60467020:T:C
                                  Gene:
                                  MS4A1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000008/1 (ExAC)
                                  HGVS:
                                  19.

                                  rs775234557 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:60463025 (GRCh38)
                                    11:60230498 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:60463024:C:T
                                    Gene:
                                    MS4A1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/1 (ExAC)
                                    T=0.000008/2 (GnomAD_exomes)
                                    T=0.000014/2 (GnomAD)
                                    T=0.000019/5 (TOPMED)
                                    HGVS:
                                    20.

                                    rs775083698 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:60463100 (GRCh38)
                                      11:60230573 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:60463099:C:T
                                      Gene:
                                      MS4A1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000008/1 (ExAC)
                                      HGVS:

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