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Links from Gene

Items: 1 to 20 of 1991

1.

rs1491360678 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    1:228648861 (GRCh38)
    1:228784609 (GRCh37)
    Canonical SPDI:
    NC_000001.11:228648861::C
    Gene:
    RHOU (Varview), DUSP5P1 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    C=0.00002/1 (GnomAD)
    HGVS:
    2.

    rs1491217084 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>- [Show Flanks]
      Chromosome:
      1:228648862 (GRCh38)
      1:228784609 (GRCh37)
      Canonical SPDI:
      NC_000001.11:228648860:TTT:T
      Gene:
      RHOU (Varview), DUSP5P1 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      -=0.00002/1 (GnomAD)
      HGVS:
      3.

      rs1490955352 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:228646804 (GRCh38)
        1:228782551 (GRCh37)
        Canonical SPDI:
        NC_000001.11:228646803:G:A
        Gene:
        RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        A=0.000043/6 (GnomAD)
        HGVS:
        4.

        rs1490418064 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          1:228651657 (GRCh38)
          1:228787404 (GRCh37)
          Canonical SPDI:
          NC_000001.11:228651656:C:A,NC_000001.11:228651656:C:T
          Gene:
          RHOU (Varview), DUSP5P1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489809780 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            1:228646899 (GRCh38)
            1:228782646 (GRCh37)
            Canonical SPDI:
            NC_000001.11:228646898:C:G,NC_000001.11:228646898:C:T
            Gene:
            RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000021/3 (GnomAD)
            G=0.000106/2 (TOMMO)
            HGVS:
            6.

            rs1488866249 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:228647125 (GRCh38)
              1:228782872 (GRCh37)
              Canonical SPDI:
              NC_000001.11:228647124:A:G
              Gene:
              RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1488665168 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                1:228652747 (GRCh38)
                1:228788494 (GRCh37)
                Canonical SPDI:
                NC_000001.11:228652746:A:C
                Gene:
                RHOU (Varview), DUSP5P1 (Varview)
                Functional Consequence:
                intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488336862 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  1:228650541 (GRCh38)
                  1:228786288 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:228650540:G:A,NC_000001.11:228650540:G:C
                  Gene:
                  RHOU (Varview), DUSP5P1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000015/2 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1488099199 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    1:228651130 (GRCh38)
                    1:228786877 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:228651129:C:A
                    Gene:
                    RHOU (Varview), DUSP5P1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,genic_upstream_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:
                    10.

                    rs1488048568 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:228650182 (GRCh38)
                      1:228785929 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:228650181:G:A
                      Gene:
                      RHOU (Varview), DUSP5P1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1487926789 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        1:228646111 (GRCh38)
                        1:228781859 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:228646111::A
                        Gene:
                        RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.01526/181 (ALFA)
                        A=0.03129/189 (TOMMO)
                        HGVS:
                        12.

                        rs1487864460 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:228646710 (GRCh38)
                          1:228782457 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:228646709:C:T
                          Gene:
                          RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1487113419 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:228647964 (GRCh38)
                            1:228783711 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:228647963:G:A
                            Gene:
                            RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1486773134 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:228652862 (GRCh38)
                              1:228788609 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:228652861:A:G
                              Gene:
                              RHOU (Varview), DUSP5P1 (Varview)
                              Functional Consequence:
                              intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000015/4 (TOPMED)
                              G=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1486720997 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                1:228651791 (GRCh38)
                                1:228787538 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:228651790:T:G
                                Gene:
                                RHOU (Varview), DUSP5P1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1486453491 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  1:228646955 (GRCh38)
                                  1:228782702 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:228646954:A:T
                                  Gene:
                                  RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485476284 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    1:228647196 (GRCh38)
                                    1:228782943 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:228647195:G:C,NC_000001.11:228647195:G:T
                                    Gene:
                                    RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485008851 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:228648053 (GRCh38)
                                      1:228783800 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:228648052:G:A
                                      Gene:
                                      RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1484662167 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        1:228647008 (GRCh38)
                                        1:228782755 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:228647007:G:A,NC_000001.11:228647007:G:C
                                        Gene:
                                        RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000022/3 (GnomAD)
                                        C=0.000156/1 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1484406036 has merged into rs71180800 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TTCTTTCTTTCT>-,TTCT,TTCTTTCT,TTCTTTCTTTCTTTCT,TTCTTTCTTTCTTTCTTTCT,TTCTTTCTTTCTTTCTTTCTTTCT [Show Flanks]
                                          Chromosome:
                                          1:228648874 (GRCh38)
                                          1:228784621 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCT,NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCT,NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCTTTCT,NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT,NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT,NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT
                                          Gene:
                                          RHOU (Varview), DUSP5P1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TCTTTCTTTCTTTCTTTCT=0./0 (ALFA)
                                          -=0.2763/1368 (1000Genomes)
                                          HGVS:
                                          NC_000001.11:g.228648862TTCT[3], NC_000001.11:g.228648862TTCT[4], NC_000001.11:g.228648862TTCT[5], NC_000001.11:g.228648862TTCT[7], NC_000001.11:g.228648862TTCT[8], NC_000001.11:g.228648862TTCT[9], NC_000001.10:g.228784609TTCT[3], NC_000001.10:g.228784609TTCT[4], NC_000001.10:g.228784609TTCT[5], NC_000001.10:g.228784609TTCT[7], NC_000001.10:g.228784609TTCT[8], NC_000001.10:g.228784609TTCT[9], NW_018654708.1:g.226189TTCT[3], NW_018654708.1:g.226189TTCT[4], NW_018654708.1:g.226189TTCT[5], NW_018654708.1:g.226189TTCT[7], NW_018654708.1:g.226189TTCT[8], NW_018654708.1:g.226189TTCT[9], NM_152664.1:c.*287TTCT[3], NM_152664.1:c.*287TTCT[4], NM_152664.1:c.*287TTCT[5], NM_152664.1:c.*287TTCT[7], NM_152664.1:c.*287TTCT[8], NM_152664.1:c.*287TTCT[9], XM_047443122.1:c.*287TTCT[3], XM_047443122.1:c.*287TTCT[4], XM_047443122.1:c.*287TTCT[5], XM_047443122.1:c.*287TTCT[7], XM_047443122.1:c.*287TTCT[8], XM_047443122.1:c.*287TTCT[9]

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