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1.

rs1803545 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    22:21772876 (GRCh38)
    22:22127165 (GRCh37)
    Canonical SPDI:
    NC_000022.11:21772875:G:A
    Gene:
    MAPK1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000057/1 (ALFA)
    A=0.000077/1 (GoESP)
    A=0.000446/14 (GnomAD)
    A=0.00129/162 (TOPMED)
    A=0.001335/162 (ExAC)
    A=0.001365/343 (GnomAD_exomes)
    A=0.003794/19 (1000Genomes)
    A=0.009772/6 (Vietnamese)
    A=0.011811/12 (HapMap)
    A=0.017467/32 (Korea1K)
    A=0.018089/53 (KOREAN)
    G=0.5/2 (SGDP_PRJ)
    HGVS:
    2.

    rs797044892 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      22:21805938 (GRCh38)
      22:22160227 (GRCh37)
      Canonical SPDI:
      NC_000022.11:21805937:C:G
      Gene:
      MAPK1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Clinical significance:
      pathogenic
      HGVS:
      3.

      rs1057519911 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        22:21772875 (GRCh38)
        22:22127164 (GRCh37)
        Canonical SPDI:
        NC_000022.11:21772874:C:T
        Gene:
        MAPK1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Clinical significance:
        likely-pathogenic
        Validated:
        by cluster
        HGVS:
        4.

        rs59810675 has merged into rs1803545 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          22:21772876 (GRCh38)
          22:22127165 (GRCh37)
          Canonical SPDI:
          NC_000022.11:21772875:G:A
          Gene:
          MAPK1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000057/1 (ALFA)
          A=0.000077/1 (GoESP)
          A=0.000446/14 (GnomAD)
          A=0.00129/162 (TOPMED)
          A=0.001335/162 (ExAC)
          A=0.001365/343 (GnomAD_exomes)
          A=0.003794/19 (1000Genomes)
          A=0.009772/6 (Vietnamese)
          A=0.011811/12 (HapMap)
          A=0.017467/32 (Korea1K)
          A=0.018089/53 (KOREAN)
          G=0.5/2 (SGDP_PRJ)
          HGVS:
          5.

          rs2276009 has merged into rs1803545 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            22:21772876 (GRCh38)
            22:22127165 (GRCh37)
            Canonical SPDI:
            NC_000022.11:21772875:G:A
            Gene:
            MAPK1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000057/1 (ALFA)
            A=0.000077/1 (GoESP)
            A=0.000446/14 (GnomAD)
            A=0.00129/162 (TOPMED)
            A=0.001335/162 (ExAC)
            A=0.001365/343 (GnomAD_exomes)
            A=0.003794/19 (1000Genomes)
            A=0.009772/6 (Vietnamese)
            A=0.011811/12 (HapMap)
            A=0.017467/32 (Korea1K)
            A=0.018089/53 (KOREAN)
            G=0.5/2 (SGDP_PRJ)
            HGVS:
            6.

            rs6928 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G [Show Flanks]
              Chromosome:
              22:21760715 (GRCh38)
              22:22115004 (GRCh37)
              Canonical SPDI:
              NC_000022.11:21760714:C:A,NC_000022.11:21760714:C:G
              Gene:
              MAPK1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.492687/1078 (ALFA)
              C=0.35/147 (SGDP_PRJ)
              G=0.375/15 (GENOME_DK)
              G=0.393857/1154 (KOREAN)
              C=0.412037/89 (Qatari)
              G=0.416485/763 (Korea1K)
              G=0.435/261 (NorthernSweden)
              C=0.444444/16 (Siberian)
              G=0.462264/98 (Vietnamese)
              G=0.472756/2117 (Estonian)
              G=0.47508/14870 (GnomAD)
              C=0.482356/1859 (ALSPAC)
              C=0.484628/1797 (TWINSUK)
              G=0.486821/2438 (1000Genomes)
              C=0.493988/493 (GoNL)
              G=0.49451/38915 (PAGE_STUDY)
              G=0.494715/936 (HapMap)
              G=0.496329/62323 (TOPMED)
              HGVS:
              7.

              rs9340 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                22:21761064 (GRCh38)
                22:22115353 (GRCh37)
                Canonical SPDI:
                NC_000022.11:21761063:G:A
                Gene:
                MAPK1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.417287/44189 (ALFA)
                A=0.16587/486 (KOREAN)
                A=0.197052/361 (Korea1K)
                A=0.252336/54 (Vietnamese)
                A=0.334465/1675 (1000Genomes)
                A=0.338333/203 (NorthernSweden)
                A=0.338349/26622 (PAGE_STUDY)
                A=0.34127/645 (HapMap)
                A=0.35/14 (GENOME_DK)
                A=0.365522/11454 (GnomAD)
                A=0.378727/47556 (TOPMED)
                A=0.38008/1702 (Estonian)
                A=0.406814/406 (GoNL)
                G=0.407407/110 (SGDP_PRJ)
                A=0.417745/1549 (TWINSUK)
                A=0.417748/1610 (ALSPAC)
                A=0.458333/99 (Qatari)
                G=0.466667/14 (Siberian)
                A=0.470037/251 (MGP)
                HGVS:
                8.

                rs13058 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  22:21763213 (GRCh38)
                  22:22117502 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:21763212:A:C
                  Gene:
                  MAPK1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.049545/185 (ALFA)
                  C=0.023472/43 (Korea1K)
                  C=0.02601/76 (KOREAN)
                  C=0.027439/9 (HapMap)
                  C=0.031667/19 (NorthernSweden)
                  C=0.037939/190 (1000Genomes)
                  C=0.04442/199 (Estonian)
                  C=0.047531/1492 (GnomAD)
                  C=0.050315/6318 (TOPMED)
                  C=0.055267/213 (ALSPAC)
                  C=0.056095/208 (TWINSUK)
                  C=0.058116/58 (GoNL)
                  C=0.064815/14 (Qatari)
                  C=0.080524/43 (MGP)
                  A=0.5/2 (Siberian)
                  A=0.5/31 (SGDP_PRJ)
                  HGVS:
                  9.

                  rs13515 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    22:21761597 (GRCh38)
                    22:22115886 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:21761596:C:T
                    Gene:
                    MAPK1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.189499/13321 (ALFA)
                    T=0.133333/80 (NorthernSweden)
                    T=0.14726/4616 (GnomAD)
                    T=0.148438/665 (Estonian)
                    T=0.150424/284 (HapMap)
                    T=0.16145/20273 (TOPMED)
                    T=0.163138/12838 (PAGE_STUDY)
                    T=0.175919/881 (1000Genomes)
                    T=0.178357/178 (GoNL)
                    T=0.193565/746 (ALSPAC)
                    T=0.196063/727 (TWINSUK)
                    T=0.197052/361 (Korea1K)
                    T=0.199074/43 (Qatari)
                    T=0.2/8 (GENOME_DK)
                    T=0.202389/593 (KOREAN)
                    T=0.225962/47 (Vietnamese)
                    C=0.405941/82 (SGDP_PRJ)
                    C=0.5/11 (Siberian)
                    HGVS:
                    10.

                    rs13943 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      22:21761913 (GRCh38)
                      22:22116202 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:21761912:C:G,NC_000022.11:21761912:C:T
                      Gene:
                      MAPK1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.484461/1060 (ALFA)
                      C=0.318807/139 (SGDP_PRJ)
                      G=0.375/15 (GENOME_DK)
                      G=0.393857/1154 (KOREAN)
                      C=0.402778/87 (Qatari)
                      G=0.417031/764 (Korea1K)
                      G=0.435/261 (NorthernSweden)
                      C=0.444444/16 (Siberian)
                      C=0.453356/56927 (TOPMED)
                      C=0.461462/2311 (1000Genomes)
                      G=0.472545/2117 (Estonian)
                      C=0.478261/154 (HapMap)
                      C=0.480086/15043 (GnomAD)
                      G=0.481308/103 (Vietnamese)
                      C=0.482356/1859 (ALSPAC)
                      C=0.484628/1797 (TWINSUK)
                      C=0.492986/492 (GoNL)
                      HGVS:
                      11.

                      rs743409 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        22:21774926 (GRCh38)
                        22:22129215 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:21774925:A:G,NC_000022.11:21774925:A:T
                        Gene:
                        MAPK1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.4773/19534 (ALFA)
                        A=0.294118/10 (Siberian)
                        A=0.297357/135 (SGDP_PRJ)
                        G=0.4/16 (GENOME_DK)
                        A=0.402778/87 (Qatari)
                        G=0.405802/1189 (KOREAN)
                        A=0.423036/797 (HapMap)
                        G=0.426856/782 (Korea1K)
                        A=0.428503/893 (HGDP_Stanford)
                        A=0.442093/2214 (1000Genomes)
                        A=0.444962/55873 (TOPMED)
                        G=0.46/276 (NorthernSweden)
                        A=0.472765/14772 (GnomAD)
                        G=0.476339/2134 (Estonian)
                        A=0.48028/1851 (ALSPAC)
                        A=0.48274/1790 (TWINSUK)
                        A=0.488978/488 (GoNL)
                        A=0.49537/107 (Vietnamese)
                        HGVS:
                        12.

                        rs743411 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          22:21765414 (GRCh38)
                          22:22119703 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:21765413:C:T
                          Gene:
                          MAPK1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.05148/915 (ALFA)
                          T=0.017857/80 (Estonian)
                          T=0.025/15 (NorthernSweden)
                          T=0.03006/30 (GoNL)
                          T=0.037623/145 (ALSPAC)
                          T=0.038565/143 (TWINSUK)
                          T=0.041303/1297 (GnomAD)
                          T=0.047425/5955 (TOPMED)
                          T=0.048701/15 (HapMap)
                          T=0.07372/216 (KOREAN)
                          T=0.075679/379 (1000Genomes)
                          T=0.087882/161 (Korea1K)
                          T=0.087963/19 (Qatari)
                          T=0.180556/39 (Vietnamese)
                          C=0.46/23 (SGDP_PRJ)
                          C=0.5/2 (Siberian)
                          HGVS:
                          13.

                          rs1048748 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            22:21788749 (GRCh38)
                            22:22143038 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:21788748:A:G
                            Gene:
                            MAPK1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/1 (TOPMED)
                            HGVS:
                            14.

                            rs1048752 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              22:21764144 (GRCh38)
                              22:22118433 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:21764143:T:C
                              Gene:
                              MAPK1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by cluster
                              HGVS:
                              15.

                              rs1063311 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                22:21762178 (GRCh38)
                                22:22116467 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:21762177:C:T
                                Gene:
                                MAPK1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.399421/10627 (ALFA)
                                T=0.165529/485 (KOREAN)
                                T=0.196507/360 (Korea1K)
                                T=0.252336/54 (Vietnamese)
                                T=0.332668/1666 (1000Genomes)
                                T=0.336876/634 (HapMap)
                                T=0.338333/203 (NorthernSweden)
                                T=0.35/14 (GENOME_DK)
                                T=0.362998/11372 (GnomAD)
                                T=0.375613/47165 (TOPMED)
                                T=0.379018/1698 (Estonian)
                                T=0.406814/406 (GoNL)
                                C=0.409091/108 (SGDP_PRJ)
                                T=0.417745/1549 (TWINSUK)
                                T=0.418267/1612 (ALSPAC)
                                T=0.462963/100 (Qatari)
                                C=0.466667/14 (Siberian)
                                HGVS:
                                16.

                                rs1130164 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  22:21788704 (GRCh38)
                                  22:22142993 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:21788703:G:A
                                  Gene:
                                  MAPK1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000016/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1557287 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:21786418 (GRCh38)
                                    22:22140707 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:21786417:C:T
                                    Gene:
                                    MAPK1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000457/1 (ALFA)
                                    T=0.003765/118 (GnomAD)
                                    T=0.00463/1 (Qatari)
                                    T=0.005001/628 (TOPMED)
                                    T=0.006135/2 (HapMap)
                                    T=0.006789/34 (1000Genomes)
                                    C=0.5/1 (SGDP_PRJ)
                                    HGVS:
                                    18.

                                    rs1557288 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      22:21786598 (GRCh38)
                                      22:22140887 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:21786597:A:G,NC_000022.11:21786597:A:T
                                      Gene:
                                      MAPK1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000446/2 (Estonian)
                                      T=0.001002/1 (GoNL)
                                      T=0.001198/6 (1000Genomes)
                                      T=0.001297/5 (ALSPAC)
                                      T=0.001341/42 (GnomAD)
                                      T=0.001433/180 (TOPMED)
                                      T=0.003236/12 (TWINSUK)
                                      T=0.00463/1 (Qatari)
                                      T=0.006098/2 (HapMap)
                                      HGVS:
                                      19.

                                      rs1803546 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        22:21764121 (GRCh38)
                                        22:22118410 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:21764120:C:A
                                        Gene:
                                        MAPK1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,3_prime_UTR_variant
                                        HGVS:
                                        20.

                                        rs1892846 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,T [Show Flanks]
                                          Chromosome:
                                          22:21832190 (GRCh38)
                                          22:22186479 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:21832189:A:C,NC_000022.11:21832189:A:T
                                          Gene:
                                          MAPK1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.486289/19578 (ALFA)
                                          A=0.319444/138 (SGDP_PRJ)
                                          C=0.375/15 (GENOME_DK)
                                          C=0.391126/1146 (KOREAN)
                                          A=0.398148/86 (Qatari)
                                          C=0.415393/761 (Korea1K)
                                          A=0.433652/817 (HapMap)
                                          A=0.444444/16 (Siberian)
                                          C=0.445/267 (NorthernSweden)
                                          A=0.452759/56852 (TOPMED)
                                          A=0.459265/2300 (1000Genomes)
                                          A=0.461612/962 (HGDP_Stanford)
                                          C=0.474554/2126 (Estonian)
                                          A=0.479535/15020 (GnomAD)
                                          C=0.481308/103 (Vietnamese)
                                          A=0.482615/1860 (ALSPAC)
                                          A=0.484358/1796 (TWINSUK)
                                          A=0.491984/491 (GoNL)
                                          HGVS:

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