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Items: 1 to 20 of 2704

1.

rs1490929036 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    22:50271637 (GRCh38)
    22:50710066 (GRCh37)
    Canonical SPDI:
    NC_000022.11:50271636:G:T
    Gene:
    MAPK11 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.00005/7 (GnomAD)
    HGVS:
    2.

    rs1490714015 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      22:50270798 (GRCh38)
      22:50709227 (GRCh37)
      Canonical SPDI:
      NC_000022.11:50270797:G:A,NC_000022.11:50270797:G:C
      Gene:
      MAPK11 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490611327 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        22:50263813 (GRCh38)
        22:50702242 (GRCh37)
        Canonical SPDI:
        NC_000022.11:50263812:G:A
        Gene:
        MAPK11 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,non_coding_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:
        4.

        rs1490437436 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          22:50271219 (GRCh38)
          22:50709648 (GRCh37)
          Canonical SPDI:
          NC_000022.11:50271218:C:T
          Gene:
          MAPK11 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490422298 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            22:50272246 (GRCh38)
            22:50710675 (GRCh37)
            Canonical SPDI:
            NC_000022.11:50272245:T:C
            Gene:
            MAPK11 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1489934338 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              22:50271965 (GRCh38)
              22:50710394 (GRCh37)
              Canonical SPDI:
              NC_000022.11:50271964:C:G,NC_000022.11:50271964:C:T
              Gene:
              MAPK11 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1489883931 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                22:50271207 (GRCh38)
                22:50709636 (GRCh37)
                Canonical SPDI:
                NC_000022.11:50271206:C:G,NC_000022.11:50271206:C:T
                Gene:
                MAPK11 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000026/7 (TOPMED)
                HGVS:
                8.

                rs1489819933 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  22:50265204 (GRCh38)
                  22:50703633 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:50265203:A:C
                  Gene:
                  MAPK11 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1489579040 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    22:50271171 (GRCh38)
                    22:50709600 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:50271170:C:G
                    Gene:
                    MAPK11 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489103726 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      22:50265762 (GRCh38)
                      22:50704191 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:50265761:C:T
                      Gene:
                      MAPK11 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488750097 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        22:50265972 (GRCh38)
                        22:50704401 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:50265971:C:A,NC_000022.11:50265971:C:G
                        Gene:
                        MAPK11 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1488697699 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          22:50269813 (GRCh38)
                          22:50708242 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:50269812:C:G
                          Gene:
                          MAPK11 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1488687429 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:50272023 (GRCh38)
                            22:50710452 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:50272022:C:T
                            Gene:
                            MAPK11 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1488624552 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              22:50269029 (GRCh38)
                              22:50707458 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:50269028:A:
                              Gene:
                              MAPK11 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0.000071/1 (ALFA)
                              -=0.000014/2 (GnomAD)
                              -=0.000034/9 (TOPMED)
                              HGVS:
                              15.

                              rs1487968168 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                22:50269754 (GRCh38)
                                22:50708183 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:50269753:C:A,NC_000022.11:50269753:C:T
                                Gene:
                                MAPK11 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1487927713 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->TTTCC [Show Flanks]
                                  Chromosome:
                                  22:50263799 (GRCh38)
                                  22:50702229 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:50263799:CCTTTCC:CCTTTCCTTTCC
                                  Gene:
                                  MAPK11 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CCTTTCCTTTCC=0.000071/1 (ALFA)
                                  CCTTT=0.000004/1 (TOPMED)
                                  CCTTT=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487874008 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    22:50264526 (GRCh38)
                                    22:50702955 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:50264525:G:C
                                    Gene:
                                    MAPK11 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    C=0.000354/6 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1487848072 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      C>- [Show Flanks]
                                      Chromosome:
                                      22:50263352 (GRCh38)
                                      22:50701781 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:50263351:CCCC:CCC
                                      Gene:
                                      MAPK11 (Varview), MAPK12 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CCC=0./0 (ALFA)
                                      -=0.000029/4 (GnomAD)
                                      -=0.000049/13 (TOPMED)
                                      -=0.000106/3 (TOMMO)
                                      -=0.001092/2 (Korea1K)
                                      HGVS:
                                      19.

                                      rs1487779857 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        22:50269680 (GRCh38)
                                        22:50708109 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:50269679:G:A,NC_000022.11:50269679:G:T
                                        Gene:
                                        MAPK11 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        A=0.000546/1 (Korea1K)
                                        A=0.000602/10 (TOMMO)
                                        A=0.001027/3 (KOREAN)
                                        HGVS:
                                        20.

                                        rs1487616489 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          22:50263857 (GRCh38)
                                          22:50702286 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:50263856:G:A
                                          Gene:
                                          MAPK11 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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