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Items: 1 to 20 of 21228

1.

rs1491575051 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TTTTTTTTTTTTTTTTTA [Show Flanks]
    Chromosome:
    15:63511264 (GRCh38)
    15:63803464 (GRCh37)
    Canonical SPDI:
    NC_000015.10:63511264:TTA:TTATTTTTTTTTTTTTTTTTA
    Gene:
    USP3 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    HGVS:
    2.

    rs1491526657 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->TT [Show Flanks]
      Chromosome:
      15:63512304 (GRCh38)
      15:63804504 (GRCh37)
      Canonical SPDI:
      NC_000015.10:63512304::TT
      Gene:
      USP3 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      TT=0.00014/19 (GnomAD)
      HGVS:
      3.

      rs1491455886 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        15:63536455 (GRCh38)
        15:63828655 (GRCh37)
        Canonical SPDI:
        NC_000015.10:63536455::G
        Gene:
        USP3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000033/1 (GnomAD)
        HGVS:
        4.

        rs1491416627 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CC>- [Show Flanks]
          Chromosome:
          15:63512304 (GRCh38)
          15:63804503 (GRCh37)
          Canonical SPDI:
          NC_000015.10:63512303:CC:
          Gene:
          USP3 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          -=0.000022/3 (GnomAD)
          HGVS:
          5.

          rs1491403870 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            15:63511287 (GRCh38)
            15:63803486 (GRCh37)
            Canonical SPDI:
            NC_000015.10:63511285:TCT:T
            Gene:
            USP3 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            -=0.00007/2 (TOMMO)
            -=0.00009/1 (GnomAD)
            HGVS:
            6.

            rs1491377076 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TT>- [Show Flanks]
              Chromosome:
              15:63590062 (GRCh38)
              15:63882261 (GRCh37)
              Canonical SPDI:
              NC_000015.10:63590060:TTT:T
              Gene:
              USP3 (Varview), USP3-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              -=0.000034/9 (TOPMED)
              HGVS:
              7.

              rs1491376901 has merged into rs34923651 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
                Chromosome:
                15:63592767 (GRCh38)
                15:63884966 (GRCh37)
                Canonical SPDI:
                NC_000015.10:63592759:TTTTTTTTTTTTT:TTTTTTT,NC_000015.10:63592759:TTTTTTTTTTTTT:TTTTTTTT,NC_000015.10:63592759:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:63592759:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:63592759:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:63592759:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:63592759:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
                Gene:
                USP3 (Varview), USP3-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTT=0./0 (ALFA)
                -=0.247/1237 (1000Genomes)
                -=0.275/11 (GENOME_DK)
                -=0.30333/182 (NorthernSweden)
                -=0.36435/1351 (TWINSUK)
                -=0.37494/1445 (ALSPAC)
                HGVS:
                NC_000015.10:g.63592767_63592772del, NC_000015.10:g.63592768_63592772del, NC_000015.10:g.63592770_63592772del, NC_000015.10:g.63592771_63592772del, NC_000015.10:g.63592772del, NC_000015.10:g.63592772dup, NC_000015.10:g.63592771_63592772dup, NC_000015.9:g.63884966_63884971del, NC_000015.9:g.63884967_63884971del, NC_000015.9:g.63884969_63884971del, NC_000015.9:g.63884970_63884971del, NC_000015.9:g.63884971del, NC_000015.9:g.63884971dup, NC_000015.9:g.63884970_63884971dup, NG_027784.1:g.415_420del, NG_027784.1:g.416_420del, NG_027784.1:g.418_420del, NG_027784.1:g.419_420del, NG_027784.1:g.420del, NG_027784.1:g.420dup, NG_027784.1:g.419_420dup, NM_006537.4:c.*1941_*1946del, NM_006537.4:c.*1942_*1946del, NM_006537.4:c.*1944_*1946del, NM_006537.4:c.*1945_*1946del, NM_006537.4:c.*1946del, NM_006537.4:c.*1946dup, NM_006537.4:c.*1945_*1946dup, NM_006537.3:c.*1941_*1946del, NM_006537.3:c.*1942_*1946del, NM_006537.3:c.*1944_*1946del, NM_006537.3:c.*1945_*1946del, NM_006537.3:c.*1946del, NM_006537.3:c.*1946dup, NM_006537.3:c.*1945_*1946dup, XM_017022765.2:c.*1941_*1946del, XM_017022765.2:c.*1942_*1946del, XM_017022765.2:c.*1944_*1946del, XM_017022765.2:c.*1945_*1946del, XM_017022765.2:c.*1946del, XM_017022765.2:c.*1946dup, XM_017022765.2:c.*1945_*1946dup, XM_017022765.1:c.*1941_*1946del, XM_017022765.1:c.*1942_*1946del, XM_017022765.1:c.*1944_*1946del, XM_017022765.1:c.*1945_*1946del, XM_017022765.1:c.*1946del, XM_017022765.1:c.*1946dup, XM_017022765.1:c.*1945_*1946dup, XM_017022763.2:c.*1941_*1946del, XM_017022763.2:c.*1942_*1946del, XM_017022763.2:c.*1944_*1946del, XM_017022763.2:c.*1945_*1946del, XM_017022763.2:c.*1946del, XM_017022763.2:c.*1946dup, XM_017022763.2:c.*1945_*1946dup, XM_017022763.1:c.*1941_*1946del, XM_017022763.1:c.*1942_*1946del, XM_017022763.1:c.*1944_*1946del, XM_017022763.1:c.*1945_*1946del, XM_017022763.1:c.*1946del, XM_017022763.1:c.*1946dup, XM_017022763.1:c.*1945_*1946dup, XM_017022764.2:c.*1941_*1946del, XM_017022764.2:c.*1942_*1946del, XM_017022764.2:c.*1944_*1946del, XM_017022764.2:c.*1945_*1946del, XM_017022764.2:c.*1946del, XM_017022764.2:c.*1946dup, XM_017022764.2:c.*1945_*1946dup, XM_017022764.1:c.*1941_*1946del, XM_017022764.1:c.*1942_*1946del, XM_017022764.1:c.*1944_*1946del, XM_017022764.1:c.*1945_*1946del, XM_017022764.1:c.*1946del, XM_017022764.1:c.*1946dup, XM_017022764.1:c.*1945_*1946dup, NR_046341.2:n.3804_3809del, NR_046341.2:n.3805_3809del, NR_046341.2:n.3807_3809del, NR_046341.2:n.3808_3809del, NR_046341.2:n.3809del, NR_046341.2:n.3809dup, NR_046341.2:n.3808_3809dup, NR_046341.1:n.3886_3891del, NR_046341.1:n.3887_3891del, NR_046341.1:n.3889_3891del, NR_046341.1:n.3890_3891del, NR_046341.1:n.3891del, NR_046341.1:n.3891dup, NR_046341.1:n.3890_3891dup, NR_046342.2:n.3767_3772del, NR_046342.2:n.3768_3772del, NR_046342.2:n.3770_3772del, NR_046342.2:n.3771_3772del, NR_046342.2:n.3772del, NR_046342.2:n.3772dup, NR_046342.2:n.3771_3772dup, NR_046342.1:n.3849_3854del, NR_046342.1:n.3850_3854del, NR_046342.1:n.3852_3854del, NR_046342.1:n.3853_3854del, NR_046342.1:n.3854del, NR_046342.1:n.3854dup, NR_046342.1:n.3853_3854dup, NM_001256702.2:c.*1941_*1946del, NM_001256702.2:c.*1942_*1946del, NM_001256702.2:c.*1944_*1946del, NM_001256702.2:c.*1945_*1946del, NM_001256702.2:c.*1946del, NM_001256702.2:c.*1946dup, NM_001256702.2:c.*1945_*1946dup, NM_001256702.1:c.*1941_*1946del, NM_001256702.1:c.*1942_*1946del, NM_001256702.1:c.*1944_*1946del, NM_001256702.1:c.*1945_*1946del, NM_001256702.1:c.*1946del, NM_001256702.1:c.*1946dup, NM_001256702.1:c.*1945_*1946dup, XM_047433393.1:c.*1941_*1946del, XM_047433393.1:c.*1942_*1946del, XM_047433393.1:c.*1944_*1946del, XM_047433393.1:c.*1945_*1946del, XM_047433393.1:c.*1946del, XM_047433393.1:c.*1946dup, XM_047433393.1:c.*1945_*1946dup, XM_047433395.1:c.*1941_*1946del, XM_047433395.1:c.*1942_*1946del, XM_047433395.1:c.*1944_*1946del, XM_047433395.1:c.*1945_*1946del, XM_047433395.1:c.*1946del, XM_047433395.1:c.*1946dup, XM_047433395.1:c.*1945_*1946dup, XM_047433394.1:c.*1941_*1946del, XM_047433394.1:c.*1942_*1946del, XM_047433394.1:c.*1944_*1946del, XM_047433394.1:c.*1945_*1946del, XM_047433394.1:c.*1946del, XM_047433394.1:c.*1946dup, XM_047433394.1:c.*1945_*1946dup
                8.

                rs1491370247 has merged into rs60885501 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  15:63577938 (GRCh38)
                  15:63870137 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:63577928:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:63577928:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:63577928:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:63577928:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:63577928:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:63577928:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:63577928:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:63577928:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:63577928:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:63577928:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:63577928:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                  Gene:
                  USP3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAA=0./0 (ALFA)
                  -=0.2782/1393 (1000Genomes)
                  HGVS:
                  9.

                  rs1491349108 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->AGAC [Show Flanks]
                    Chromosome:
                    15:63547744 (GRCh38)
                    15:63839944 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:63547744::AGAC
                    Gene:
                    USP3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AGAC=0./0 (ALFA)
                    AGAC=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1491333900 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      15:63577928 (GRCh38)
                      15:63870127 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:63577927:CA:
                      Gene:
                      USP3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.00202/24 (ALFA)
                      HGVS:
                      11.

                      rs1491295806 has merged into rs11406191 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
                        Chromosome:
                        15:63536464 (GRCh38)
                        15:63828663 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:63536454:AAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:63536454:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:63536454:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:63536454:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:63536454:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:63536454:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:63536454:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
                        Gene:
                        USP3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAA=0./0 (ALFA)
                        A=0.3307/1656 (1000Genomes)
                        HGVS:
                        12.

                        rs1491293231 has merged into rs11321018 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
                          Chromosome:
                          15:63575170 (GRCh38)
                          15:63867369 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63575158:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                          Gene:
                          USP3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTTTTTTT=0./0 (ALFA)
                          HGVS:
                          NC_000015.10:g.63575170_63575179del, NC_000015.10:g.63575171_63575179del, NC_000015.10:g.63575174_63575179del, NC_000015.10:g.63575175_63575179del, NC_000015.10:g.63575176_63575179del, NC_000015.10:g.63575177_63575179del, NC_000015.10:g.63575178_63575179del, NC_000015.10:g.63575179del, NC_000015.10:g.63575179dup, NC_000015.10:g.63575178_63575179dup, NC_000015.10:g.63575177_63575179dup, NC_000015.10:g.63575176_63575179dup, NC_000015.10:g.63575175_63575179dup, NC_000015.10:g.63575172_63575179dup, NC_000015.10:g.63575171_63575179dup, NC_000015.9:g.63867369_63867378del, NC_000015.9:g.63867370_63867378del, NC_000015.9:g.63867373_63867378del, NC_000015.9:g.63867374_63867378del, NC_000015.9:g.63867375_63867378del, NC_000015.9:g.63867376_63867378del, NC_000015.9:g.63867377_63867378del, NC_000015.9:g.63867378del, NC_000015.9:g.63867378dup, NC_000015.9:g.63867377_63867378dup, NC_000015.9:g.63867376_63867378dup, NC_000015.9:g.63867375_63867378dup, NC_000015.9:g.63867374_63867378dup, NC_000015.9:g.63867371_63867378dup, NC_000015.9:g.63867370_63867378dup
                          13.

                          rs1491284101 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CTT [Show Flanks]
                            Chromosome:
                            15:63590061 (GRCh38)
                            15:63882261 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:63590061:TTCTT:TTCTTCTT
                            Gene:
                            USP3 (Varview), USP3-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTCTTCTT=0./0 (ALFA)
                            TTC=0.000004/1 (TOPMED)
                            TTC=0.000318/5 (TOMMO)
                            TTC=0.001092/2 (Korea1K)
                            HGVS:
                            14.

                            rs1491258005 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->AAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              15:63511286 (GRCh38)
                              15:63803486 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:63511286::AAAAAAAAAAAA,NC_000015.10:63511286::AAAAAAAAAAAAAAAA
                              Gene:
                              USP3 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              HGVS:
                              15.

                              rs1491257472 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GG>- [Show Flanks]
                                Chromosome:
                                15:63547745 (GRCh38)
                                15:63839944 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:63547743:GGG:G
                                Gene:
                                USP3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.01416/168 (ALFA)
                                -=0.0003/5 (TOMMO)
                                -=0.02078/145 (GnomAD)
                                HGVS:
                                16.

                                rs1491232464 has merged into rs61283920 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  15:63511278 (GRCh38)
                                  15:63803477 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63511266:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  USP3 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAA=0./0 (ALFA)
                                  -=0./0 (GENOME_DK)
                                  AAAAAAAAAAAAA=0.3822/1914 (1000Genomes)
                                  HGVS:
                                  NC_000015.10:g.63511278_63511282del, NC_000015.10:g.63511279_63511282del, NC_000015.10:g.63511280_63511282del, NC_000015.10:g.63511281_63511282del, NC_000015.10:g.63511282del, NC_000015.10:g.63511282dup, NC_000015.10:g.63511281_63511282dup, NC_000015.10:g.63511280_63511282dup, NC_000015.10:g.63511279_63511282dup, NC_000015.10:g.63511278_63511282dup, NC_000015.10:g.63511277_63511282dup, NC_000015.10:g.63511276_63511282dup, NC_000015.10:g.63511275_63511282dup, NC_000015.10:g.63511274_63511282dup, NC_000015.10:g.63511273_63511282dup, NC_000015.10:g.63511272_63511282dup, NC_000015.10:g.63511271_63511282dup, NC_000015.10:g.63511270_63511282dup, NC_000015.10:g.63511269_63511282dup, NC_000015.10:g.63511268_63511282dup, NC_000015.10:g.63511267_63511282dup, NC_000015.10:g.63511282_63511283insAAAAAAAAAAAAAAAAA, NC_000015.10:g.63511282_63511283insAAAAAAAAAAAAAAAAAA, NC_000015.10:g.63511282_63511283insAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.63511282_63511283insAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.63511282_63511283insAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.63511282_63511283insAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.63511282_63511283insAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.63511282_63511283insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.63511282_63511283insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.63803477_63803481del, NC_000015.9:g.63803478_63803481del, NC_000015.9:g.63803479_63803481del, NC_000015.9:g.63803480_63803481del, NC_000015.9:g.63803481del, NC_000015.9:g.63803481dup, NC_000015.9:g.63803480_63803481dup, NC_000015.9:g.63803479_63803481dup, NC_000015.9:g.63803478_63803481dup, NC_000015.9:g.63803477_63803481dup, NC_000015.9:g.63803476_63803481dup, NC_000015.9:g.63803475_63803481dup, NC_000015.9:g.63803474_63803481dup, NC_000015.9:g.63803473_63803481dup, NC_000015.9:g.63803472_63803481dup, NC_000015.9:g.63803471_63803481dup, NC_000015.9:g.63803470_63803481dup, NC_000015.9:g.63803469_63803481dup, NC_000015.9:g.63803468_63803481dup, NC_000015.9:g.63803467_63803481dup, NC_000015.9:g.63803466_63803481dup, NC_000015.9:g.63803481_63803482insAAAAAAAAAAAAAAAAA, NC_000015.9:g.63803481_63803482insAAAAAAAAAAAAAAAAAA, NC_000015.9:g.63803481_63803482insAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.63803481_63803482insAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.63803481_63803482insAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.63803481_63803482insAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.63803481_63803482insAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.63803481_63803482insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.63803481_63803482insAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  18.

                                  rs1491172009 has merged into rs527520835 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
                                    Chromosome:
                                    15:63578625 (GRCh38)
                                    15:63870824 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:63578613:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:63578613:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:63578613:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:63578613:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:63578613:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:63578613:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:63578613:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:63578613:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:63578613:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                                    Gene:
                                    USP3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAAAAAAA=0./0 (ALFA)
                                    A=0.00221/37 (TOMMO)
                                    A=0.11721/587 (1000Genomes)
                                    A=0.225/9 (GENOME_DK)
                                    HGVS:
                                    19.

                                    rs1491121861 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->C [Show Flanks]
                                      Chromosome:
                                      15:63540271 (GRCh38)
                                      15:63832471 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:63540271:C:CC
                                      Gene:
                                      USP3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      CC=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1490973523 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        15:63568995 (GRCh38)
                                        15:63861194 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:63568994:G:T
                                        Gene:
                                        USP3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:

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