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Items: 1 to 20 of 4944

1.

rs1490836465 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    8:29347420 (GRCh38)
    8:29204937 (GRCh37)
    Canonical SPDI:
    NC_000008.11:29347419:A:T
    Gene:
    DUSP4 (Varview)
    Functional Consequence:
    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:
    2.

    rs1490808305 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      8:29333621 (GRCh38)
      8:29191138 (GRCh37)
      Canonical SPDI:
      NC_000008.11:29333620:C:T
      Gene:
      DUSP4 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490620910 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        8:29348616 (GRCh38)
        8:29206133 (GRCh37)
        Canonical SPDI:
        NC_000008.11:29348615:G:A,NC_000008.11:29348615:G:C
        Gene:
        DUSP4 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1490536298 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          8:29334239 (GRCh38)
          8:29191756 (GRCh37)
          Canonical SPDI:
          NC_000008.11:29334238:C:G,NC_000008.11:29334238:C:T
          Gene:
          DUSP4 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000066/1 (ALFA)
          G=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          T=0.000223/1 (Estonian)
          HGVS:
          5.

          rs1490339152 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            8:29351156 (GRCh38)
            8:29208673 (GRCh37)
            Canonical SPDI:
            NC_000008.11:29351155:G:A
            Gene:
            DUSP4 (Varview), LOC124901924 (Varview)
            Functional Consequence:
            2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000306/5 (ALFA)
            A=0.000014/2 (GnomAD)
            A=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1490045147 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              T>-
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1489867436 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                8:29340445 (GRCh38)
                8:29197962 (GRCh37)
                Canonical SPDI:
                NC_000008.11:29340444:T:C
                Gene:
                DUSP4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489765734 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  8:29338804 (GRCh38)
                  8:29196321 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:29338803:T:C
                  Gene:
                  DUSP4 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  T=0.5/1 (SGDP_PRJ)
                  HGVS:
                  9.

                  rs1489584869 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    8:29348608 (GRCh38)
                    8:29206125 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:29348607:G:A,NC_000008.11:29348607:G:C
                    Gene:
                    DUSP4 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1489527774 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      8:29334934 (GRCh38)
                      8:29192451 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:29334933:C:T
                      Gene:
                      DUSP4 (Varview)
                      Functional Consequence:
                      3_prime_UTR_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.

                      rs1489484153 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CC [Show Flanks]
                        Chromosome:
                        8:29343936 (GRCh38)
                        8:29201454 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:29343936:CC:CCCC
                        Gene:
                        DUSP4 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency
                        MAF:
                        CC=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489465692 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          8:29335625 (GRCh38)
                          8:29193142 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:29335624:C:A
                          Gene:
                          DUSP4 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          A=0.000035/1 (TOMMO)
                          A=0.001638/3 (Korea1K)
                          HGVS:
                          13.

                          rs1489429979 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:29334585 (GRCh38)
                            8:29192102 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:29334584:A:G
                            Gene:
                            DUSP4 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1489348650 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:29337084 (GRCh38)
                              8:29194601 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:29337083:G:A
                              Gene:
                              DUSP4 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_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=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488408314 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                8:29339329 (GRCh38)
                                8:29196846 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:29339328:G:A,NC_000008.11:29339328:G:C
                                Gene:
                                DUSP4 (Varview)
                                Functional Consequence:
                                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:
                                16.

                                rs1488348085 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  8:29349304 (GRCh38)
                                  8:29206821 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:29349303:T:A
                                  Gene:
                                  DUSP4 (Varview), LOC124901924 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488236793 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    8:29340113 (GRCh38)
                                    8:29197630 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:29340112:G:A
                                    Gene:
                                    DUSP4 (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=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1488087136 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      8:29332699 (GRCh38)
                                      8:29190216 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:29332698:C:T
                                      Gene:
                                      DUSP4 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000034/9 (TOPMED)
                                      T=0.000036/5 (GnomAD)
                                      T=0.001667/1 (NorthernSweden)
                                      HGVS:
                                      19.

                                      rs1488078629 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        8:29340363 (GRCh38)
                                        8:29197880 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:29340362:A:G
                                        Gene:
                                        DUSP4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1487724174 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          8:29339570 (GRCh38)
                                          8:29197087 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:29339569:T:C
                                          Gene:
                                          DUSP4 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000029/4 (GnomAD)
                                          C=0.000034/9 (TOPMED)
                                          HGVS:

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