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Items: 1 to 20 of 33509

1.

rs1491585824 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    9:34005434 (GRCh38)
    9:34005432 (GRCh37)
    Canonical SPDI:
    NC_000009.12:34005433:CA:
    Gene:
    UBAP2 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.01416/168 (ALFA)
    -=0.00184/50 (TOMMO)
    HGVS:
    2.

    rs1491584261 has merged into rs11432780 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
      Chromosome:
      9:34017027 (GRCh38)
      9:34017025 (GRCh37)
      Canonical SPDI:
      NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
      Gene:
      UBAP2 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAA=0./0 (ALFA)
      A=0.1301/35 (1000Genomes)
      -=0.37/1426 (ALSPAC)
      -=0.3754/1392 (TWINSUK)
      -=0.4/16 (GENOME_DK)
      -=0.4065/239 (NorthernSweden)
      HGVS:
      3.

      rs1491583145 has merged into rs35197118 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
        Chromosome:
        9:33992666 (GRCh38)
        9:33992664 (GRCh37)
        Canonical SPDI:
        NC_000009.12:33992658:GGGGGGGGGG:GGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGGGGGGGG
        Gene:
        UBAP2 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGGGGGG=0./0 (ALFA)
        GGGG=0.000004/1 (TOPMED)
        -=0.004918/9 (Korea1K)
        -=0.125/5 (GENOME_DK)
        -=0.17663/65 (NorthernSweden)
        HGVS:
        4.

        rs1491575362 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          9:33981302 (GRCh38)
          9:33981300 (GRCh37)
          Canonical SPDI:
          NC_000009.12:33981301:GA:
          Gene:
          UBAP2 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00076/9 (ALFA)
          HGVS:
          5.

          rs1491572292 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->C,T [Show Flanks]
            Chromosome:
            9:33935174 (GRCh38)
            9:33935173 (GRCh37)
            Canonical SPDI:
            NC_000009.12:33935174::C,NC_000009.12:33935174::T
            Gene:
            UBAP2 (Varview), SNORD121B (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.000035/1 (TOMMO)
            T=0.008389/5 (NorthernSweden)
            HGVS:
            6.

            rs1491561147 has merged into rs1217356369 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATTCTGGATATATATATATATATATAT,ATATATATTCTGGATATATATATATATAT,ATATATATTCTGGATATATATATATATATAT [Show Flanks]
              Chromosome:
              9:33981237 (GRCh38)
              9:33981235 (GRCh37)
              Canonical SPDI:
              NC_000009.12:33981226:ATATATATATATAT:ATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATATATTCTGGATATATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATATTCTGGATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATATTCTGGATATATATATATATATAT
              Gene:
              UBAP2 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATATATATATAT=0./0 (ALFA)
              ATATAT=0.00068/1 (Korea1K)
              HGVS:
              7.

              rs1491554249 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TG>- [Show Flanks]
                Chromosome:
                9:34037008 (GRCh38)
                9:34037006 (GRCh37)
                Canonical SPDI:
                NC_000009.12:34037007:TG:
                Gene:
                UBAP2 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.001096/13 (ALFA)
                -=0.000045/5 (GnomAD)
                HGVS:
                8.

                rs1491544759 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  9:34018229 (GRCh38)
                  9:34018227 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:34018228:AT:
                  Gene:
                  UBAP2 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.00002/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491532583 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    9:34014324 (GRCh38)
                    9:34014322 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:34014323:CA:
                    Gene:
                    UBAP2 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00076/9 (ALFA)
                    HGVS:
                    10.

                    rs1491512906 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AG>- [Show Flanks]
                      Chromosome:
                      9:33922038 (GRCh38)
                      9:33922036 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:33922035:AGAG:AG
                      Gene:
                      UBAP2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AGAG=0.000108/2 (ALFA)
                      -=0./0 (TWINSUK)
                      -=0.000036/5 (GnomAD)
                      -=0.00006/16 (TOPMED)
                      -=0.000223/1 (Estonian)
                      -=0.000259/1 (ALSPAC)
                      -=0.000546/1 (Korea1K)
                      HGVS:
                      11.

                      rs1491508418 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        9:34040323 (GRCh38)
                        9:34040321 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:34040322:CA:
                        Gene:
                        UBAP2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491502262 has merged into rs755860888 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
                          Chromosome:
                          9:33981174 (GRCh38)
                          9:33981172 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:33981163:ATATATATATATATAT:ATATATATAT,NC_000009.12:33981163:ATATATATATATATAT:ATATATATATAT,NC_000009.12:33981163:ATATATATATATATAT:ATATATATATATAT,NC_000009.12:33981163:ATATATATATATATAT:ATATATATATATATATAT,NC_000009.12:33981163:ATATATATATATATAT:ATATATATATATATATATAT,NC_000009.12:33981163:ATATATATATATATAT:ATATATATATATATATATATAT
                          Gene:
                          UBAP2 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          ATATATATATAT=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491486331 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CA>- [Show Flanks]
                            Chromosome:
                            9:33938795 (GRCh38)
                            9:33938793 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:33938794:CA:
                            Gene:
                            UBAP2 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.00059/7 (ALFA)
                            HGVS:
                            14.

                            rs1491482033 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              AT>- [Show Flanks]
                              Chromosome:
                              9:33951332 (GRCh38)
                              9:33951330 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:33951331:AT:
                              Gene:
                              UBAP2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491473406 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                9:34008961 (GRCh38)
                                9:34008959 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:34008960:CA:
                                Gene:
                                UBAP2 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.03136/372 (ALFA)
                                -=0.00903/142 (TOMMO)
                                HGVS:
                                16.

                                rs1491465921 has merged into rs34270173 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  9:34041309 (GRCh38)
                                  9:34041307 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  UBAP2 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAAAAAAAAA=0.0004/2 (ALFA)
                                  -=0.0794/306 (ALSPAC)
                                  A=0.0885/443 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1491440668 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GT>- [Show Flanks]
                                    Chromosome:
                                    9:33994714 (GRCh38)
                                    9:33994712 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:33994711:GTGT:GT
                                    Gene:
                                    UBAP2 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GTGT=0.000142/2 (ALFA)
                                    -=0.000036/5 (GnomAD)
                                    -=0.000072/19 (TOPMED)
                                    GT=0.428571/3 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs1491405558 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CA>- [Show Flanks]
                                      Chromosome:
                                      9:34042477 (GRCh38)
                                      9:34042475 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:34042476:CA:
                                      Gene:
                                      UBAP2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0.00017/2 (ALFA)
                                      HGVS:
                                      19.

                                      rs1491404489 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->CA [Show Flanks]
                                        Chromosome:
                                        9:34008961 (GRCh38)
                                        9:34008960 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:34008961::CA
                                        Gene:
                                        UBAP2 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CA=0./0 (ALFA)
                                        CA=0.00005/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491401105 has merged into rs74180528 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          9:34044101 (GRCh38)
                                          9:34044099 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                          Gene:
                                          UBAP2 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAA=0./0 (ALFA)
                                          HGVS:
                                          NC_000009.12:g.34044101_34044113del, NC_000009.12:g.34044102_34044113del, NC_000009.12:g.34044103_34044113del, NC_000009.12:g.34044104_34044113del, NC_000009.12:g.34044105_34044113del, NC_000009.12:g.34044106_34044113del, NC_000009.12:g.34044107_34044113del, NC_000009.12:g.34044108_34044113del, NC_000009.12:g.34044109_34044113del, NC_000009.12:g.34044110_34044113del, NC_000009.12:g.34044111_34044113del, NC_000009.12:g.34044112_34044113del, NC_000009.12:g.34044113del, NC_000009.12:g.34044113dup, NC_000009.12:g.34044112_34044113dup, NC_000009.12:g.34044111_34044113dup, NC_000009.12:g.34044109_34044113dup, NC_000009.11:g.34044099_34044111del, NC_000009.11:g.34044100_34044111del, NC_000009.11:g.34044101_34044111del, NC_000009.11:g.34044102_34044111del, NC_000009.11:g.34044103_34044111del, NC_000009.11:g.34044104_34044111del, NC_000009.11:g.34044105_34044111del, NC_000009.11:g.34044106_34044111del, NC_000009.11:g.34044107_34044111del, NC_000009.11:g.34044108_34044111del, NC_000009.11:g.34044109_34044111del, NC_000009.11:g.34044110_34044111del, NC_000009.11:g.34044111del, NC_000009.11:g.34044111dup, NC_000009.11:g.34044110_34044111dup, NC_000009.11:g.34044109_34044111dup, NC_000009.11:g.34044107_34044111dup

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