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Links from Protein

Items: 1 to 20 of 281

1.

rs1486492119 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:119912804 (GRCh38)
    3:119631651 (GRCh37)
    Canonical SPDI:
    NC_000003.12:119912803:C:T
    Gene:
    GSK3B (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000671/3 (ALFA)
    T=0.000021/3 (GnomAD)
    T=0.00067/3 (Estonian)
    HGVS:
    2.

    rs1480739806 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:120002121 (GRCh38)
      3:119720968 (GRCh37)
      Canonical SPDI:
      NC_000003.12:120002120:C:T
      Gene:
      GSK3B (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000011/3 (TOPMED)
      T=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1469499668 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:120002157 (GRCh38)
        3:119721004 (GRCh37)
        Canonical SPDI:
        NC_000003.12:120002156:T:C
        Gene:
        GSK3B (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.
        5.

        rs1457937441 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:119863552 (GRCh38)
          3:119582399 (GRCh37)
          Canonical SPDI:
          NC_000003.12:119863551:C:T
          Gene:
          GSK3B (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          6.

          rs1457020259 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:119905812 (GRCh38)
            3:119624659 (GRCh37)
            Canonical SPDI:
            NC_000003.12:119905811:T:C
            Gene:
            GSK3B (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000011/3 (TOPMED)
            HGVS:
            7.

            rs1452045897 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:119863434 (GRCh38)
              3:119582281 (GRCh37)
              Canonical SPDI:
              NC_000003.12:119863433:T:C
              Gene:
              GSK3B (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000008/2 (TOPMED)
              HGVS:
              8.

              rs1451473946 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                3:120002148 (GRCh38)
                3:119720995 (GRCh37)
                Canonical SPDI:
                NC_000003.12:120002147:T:G
                Gene:
                GSK3B (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                10.

                rs1447197877 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  3:119912720 (GRCh38)
                  3:119631568 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:119912720:T:TT
                  Gene:
                  GSK3B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  11.
                  12.

                  rs1436410958 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    3:120093393 (GRCh38)
                    3:119812240 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:120093392:G:T
                    Gene:
                    GSK3B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,stop_gained
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.0038/7 (Korea1K)
                    HGVS:
                    13.
                    14.

                    rs1432691354 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:119866593 (GRCh38)
                      3:119585440 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:119866592:C:T
                      Gene:
                      GSK3B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000051/1 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      15.
                      16.

                      rs1422948653 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:120002200 (GRCh38)
                        3:119721047 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:120002199:G:A
                        Gene:
                        GSK3B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        17.

                        rs1420099632 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:119876467 (GRCh38)
                          3:119595314 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:119876466:G:A
                          Gene:
                          GSK3B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          18.

                          rs1418841472 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:119916124 (GRCh38)
                            3:119634971 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:119916123:T:C
                            Gene:
                            GSK3B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            19.

                            rs1417772341 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:119863557 (GRCh38)
                              3:119582404 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:119863556:G:A
                              Gene:
                              GSK3B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              20.

                              rs1416721414 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:119947343 (GRCh38)
                                3:119666190 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:119947342:C:T
                                Gene:
                                GSK3B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:

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