U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 55629

1.

rs1491579650 has merged into rs1256587038 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    10:72502172 (GRCh38)
    10:74261930 (GRCh37)
    Canonical SPDI:
    NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72502158:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    MICU1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.03367/20 (NorthernSweden)
    HGVS:
    NC_000010.11:g.72502172_72502174del, NC_000010.11:g.72502173_72502174del, NC_000010.11:g.72502174del, NC_000010.11:g.72502174dup, NC_000010.11:g.72502173_72502174dup, NC_000010.11:g.72502172_72502174dup, NC_000010.11:g.72502164_72502174dup, NC_000010.11:g.72502163_72502174dup, NC_000010.11:g.72502162_72502174dup, NC_000010.11:g.72502161_72502174dup, NC_000010.11:g.72502160_72502174dup, NC_000010.11:g.72502159_72502174dup, NC_000010.11:g.72502174_72502175insTTTTTTTTTTTTTTTTT, NC_000010.10:g.74261930_74261932del, NC_000010.10:g.74261931_74261932del, NC_000010.10:g.74261932del, NC_000010.10:g.74261932dup, NC_000010.10:g.74261931_74261932dup, NC_000010.10:g.74261930_74261932dup, NC_000010.10:g.74261922_74261932dup, NC_000010.10:g.74261921_74261932dup, NC_000010.10:g.74261920_74261932dup, NC_000010.10:g.74261919_74261932dup, NC_000010.10:g.74261918_74261932dup, NC_000010.10:g.74261917_74261932dup, NC_000010.10:g.74261932_74261933insTTTTTTTTTTTTTTTTT, NG_033179.1:g.129031_129033del, NG_033179.1:g.129032_129033del, NG_033179.1:g.129033del, NG_033179.1:g.129033dup, NG_033179.1:g.129032_129033dup, NG_033179.1:g.129031_129033dup, NG_033179.1:g.129023_129033dup, NG_033179.1:g.129022_129033dup, NG_033179.1:g.129021_129033dup, NG_033179.1:g.129020_129033dup, NG_033179.1:g.129019_129033dup, NG_033179.1:g.129018_129033dup, NG_033179.1:g.129033_129034insAAAAAAAAAAAAAAAAA
    2.

    rs1491525035 has merged into rs58604429 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      10:72465318 (GRCh38)
      10:74225076 (GRCh37)
      Canonical SPDI:
      NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72465309:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      MICU1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0./0 (ALFA)
      -=0.1733/868 (1000Genomes)
      HGVS:
      NC_000010.11:g.72465318_72465326del, NC_000010.11:g.72465320_72465326del, NC_000010.11:g.72465321_72465326del, NC_000010.11:g.72465323_72465326del, NC_000010.11:g.72465324_72465326del, NC_000010.11:g.72465325_72465326del, NC_000010.11:g.72465326del, NC_000010.11:g.72465326dup, NC_000010.11:g.72465325_72465326dup, NC_000010.11:g.72465324_72465326dup, NC_000010.11:g.72465323_72465326dup, NC_000010.11:g.72465310_72465326T[22]AATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.72465320_72465326dup, NC_000010.11:g.72465319_72465326dup, NC_000010.11:g.72465318_72465326dup, NC_000010.10:g.74225076_74225084del, NC_000010.10:g.74225078_74225084del, NC_000010.10:g.74225079_74225084del, NC_000010.10:g.74225081_74225084del, NC_000010.10:g.74225082_74225084del, NC_000010.10:g.74225083_74225084del, NC_000010.10:g.74225084del, NC_000010.10:g.74225084dup, NC_000010.10:g.74225083_74225084dup, NC_000010.10:g.74225082_74225084dup, NC_000010.10:g.74225081_74225084dup, NC_000010.10:g.74225068_74225084T[22]AATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.74225078_74225084dup, NC_000010.10:g.74225077_74225084dup, NC_000010.10:g.74225076_74225084dup, NG_033179.1:g.165874_165882del, NG_033179.1:g.165876_165882del, NG_033179.1:g.165877_165882del, NG_033179.1:g.165879_165882del, NG_033179.1:g.165880_165882del, NG_033179.1:g.165881_165882del, NG_033179.1:g.165882del, NG_033179.1:g.165882dup, NG_033179.1:g.165881_165882dup, NG_033179.1:g.165880_165882dup, NG_033179.1:g.165879_165882dup, NG_033179.1:g.165866_165882A[26]TTAAAAAAAAAAAAAAAAAAAAAA[1], NG_033179.1:g.165876_165882dup, NG_033179.1:g.165875_165882dup, NG_033179.1:g.165874_165882dup
      3.

      rs1491514727 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CTT [Show Flanks]
        Chromosome:
        10:72441616 (GRCh38)
        10:74201375 (GRCh37)
        Canonical SPDI:
        NC_000010.11:72441616:TT:TTCTT
        Gene:
        MICU1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTCTT=0.01172/139 (ALFA)
        TTC=0.04982/1224 (GnomAD)
        HGVS:
        4.

        rs1491511279 has merged into rs869141348 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
          Chromosome:
          10:72604288 (GRCh38)
          10:74364046 (GRCh37)
          Canonical SPDI:
          NC_000010.11:72604271:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:72604271:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:72604271:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:72604271:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:72604271:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72604271:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72604271:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72604271:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72604271:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          MICU1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000010.11:g.72604288_72604290del, NC_000010.11:g.72604289_72604290del, NC_000010.11:g.72604290del, NC_000010.11:g.72604290dup, NC_000010.11:g.72604289_72604290dup, NC_000010.11:g.72604288_72604290dup, NC_000010.11:g.72604287_72604290dup, NC_000010.11:g.72604286_72604290dup, NC_000010.11:g.72604285_72604290dup, NC_000010.10:g.74364046_74364048del, NC_000010.10:g.74364047_74364048del, NC_000010.10:g.74364048del, NC_000010.10:g.74364048dup, NC_000010.10:g.74364047_74364048dup, NC_000010.10:g.74364046_74364048dup, NC_000010.10:g.74364045_74364048dup, NC_000010.10:g.74364044_74364048dup, NC_000010.10:g.74364043_74364048dup, NG_033179.1:g.26918_26920del, NG_033179.1:g.26919_26920del, NG_033179.1:g.26920del, NG_033179.1:g.26920dup, NG_033179.1:g.26919_26920dup, NG_033179.1:g.26918_26920dup, NG_033179.1:g.26917_26920dup, NG_033179.1:g.26916_26920dup, NG_033179.1:g.26915_26920dup
          5.

          rs1491502246 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            10:72457215 (GRCh38)
            10:74216973 (GRCh37)
            Canonical SPDI:
            NC_000010.11:72457214:CT:
            Gene:
            MICU1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.000084/1 (ALFA)
            -=0.000045/6 (GnomAD)
            HGVS:
            6.

            rs1491474492 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TA>- [Show Flanks]
              Chromosome:
              10:72590847 (GRCh38)
              10:74350605 (GRCh37)
              Canonical SPDI:
              NC_000010.11:72590846:TA:
              Gene:
              MICU1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:
              7.

              rs1491474325 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->C
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1491466982 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->CA [Show Flanks]
                  Chromosome:
                  10:72421003 (GRCh38)
                  10:74180762 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:72421003:A:ACA
                  Gene:
                  MICU1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  ACA=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491459665 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AG>- [Show Flanks]
                    Chromosome:
                    10:72456945 (GRCh38)
                    10:74216703 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:72456944:AG:
                    Gene:
                    MICU1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491458525 has merged into rs56293812 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
                      Chromosome:
                      10:72383258 (GRCh38)
                      10:74143016 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:72383245:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:72383245:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:72383245:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:72383245:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:72383245:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:72383245:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:72383245:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:72383245:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:72383245:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      MICU1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAAA=0./0 (ALFA)
                      A=0.2388/1196 (1000Genomes)
                      A=0.475/19 (GENOME_DK)
                      HGVS:
                      NC_000010.11:g.72383258_72383262del, NC_000010.11:g.72383259_72383262del, NC_000010.11:g.72383260_72383262del, NC_000010.11:g.72383261_72383262del, NC_000010.11:g.72383262del, NC_000010.11:g.72383262dup, NC_000010.11:g.72383261_72383262dup, NC_000010.11:g.72383260_72383262dup, NC_000010.11:g.72383259_72383262dup, NC_000010.10:g.74143016_74143020del, NC_000010.10:g.74143017_74143020del, NC_000010.10:g.74143018_74143020del, NC_000010.10:g.74143019_74143020del, NC_000010.10:g.74143020del, NC_000010.10:g.74143020dup, NC_000010.10:g.74143019_74143020dup, NC_000010.10:g.74143018_74143020dup, NC_000010.10:g.74143017_74143020dup, NG_033179.1:g.247942_247946del, NG_033179.1:g.247943_247946del, NG_033179.1:g.247944_247946del, NG_033179.1:g.247945_247946del, NG_033179.1:g.247946del, NG_033179.1:g.247946dup, NG_033179.1:g.247945_247946dup, NG_033179.1:g.247944_247946dup, NG_033179.1:g.247943_247946dup
                      11.

                      rs1491453188 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AA>-,AAAA [Show Flanks]
                        Chromosome:
                        10:72427733 (GRCh38)
                        10:74187491 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:72427730:AAAA:AA,NC_000010.11:72427730:AAAA:AAAAAA
                        Gene:
                        MICU1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAA=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000009/1 (GnomAD)
                        HGVS:
                        12.

                        rs1491450589 has merged into rs67568584 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
                          Chromosome:
                          10:72517793 (GRCh38)
                          10:74277551 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:72517781:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:72517781:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:72517781:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:72517781:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:72517781:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:72517781:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:72517781:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
                          Gene:
                          MICU1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTTTT=0./0 (ALFA)
                          T=0.2917/175 (NorthernSweden)
                          T=0.325/13 (GENOME_DK)
                          -=0.3572/1789 (1000Genomes)
                          HGVS:
                          13.

                          rs1491449921 has merged into rs35225891 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            10:72468305 (GRCh38)
                            10:74228063 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72468294:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            MICU1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTTT=0./0 (ALFA)
                            TT=0.4551/2279 (1000Genomes)
                            HGVS:
                            NC_000010.11:g.72468305_72468310del, NC_000010.11:g.72468306_72468310del, NC_000010.11:g.72468307_72468310del, NC_000010.11:g.72468308_72468310del, NC_000010.11:g.72468309_72468310del, NC_000010.11:g.72468310del, NC_000010.11:g.72468310dup, NC_000010.11:g.72468309_72468310dup, NC_000010.11:g.72468308_72468310dup, NC_000010.11:g.72468307_72468310dup, NC_000010.11:g.72468304_72468310dup, NC_000010.11:g.72468303_72468310dup, NC_000010.10:g.74228063_74228068del, NC_000010.10:g.74228064_74228068del, NC_000010.10:g.74228065_74228068del, NC_000010.10:g.74228066_74228068del, NC_000010.10:g.74228067_74228068del, NC_000010.10:g.74228068del, NC_000010.10:g.74228068dup, NC_000010.10:g.74228067_74228068dup, NC_000010.10:g.74228066_74228068dup, NC_000010.10:g.74228065_74228068dup, NC_000010.10:g.74228062_74228068dup, NC_000010.10:g.74228061_74228068dup, NG_033179.1:g.162892_162897del, NG_033179.1:g.162893_162897del, NG_033179.1:g.162894_162897del, NG_033179.1:g.162895_162897del, NG_033179.1:g.162896_162897del, NG_033179.1:g.162897del, NG_033179.1:g.162897dup, NG_033179.1:g.162896_162897dup, NG_033179.1:g.162895_162897dup, NG_033179.1:g.162894_162897dup, NG_033179.1:g.162891_162897dup, NG_033179.1:g.162890_162897dup
                            14.

                            rs1491441056 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              ->GTTTT
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1491440596 has merged into rs34221911 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                10:72421012 (GRCh38)
                                10:74180770 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:72421002:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                MICU1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAA=0./0 (ALFA)
                                HGVS:
                                NC_000010.11:g.72421012_72421018del, NC_000010.11:g.72421015_72421018del, NC_000010.11:g.72421016_72421018del, NC_000010.11:g.72421017_72421018del, NC_000010.11:g.72421018del, NC_000010.11:g.72421018dup, NC_000010.11:g.72421017_72421018dup, NC_000010.11:g.72421016_72421018dup, NC_000010.11:g.72421015_72421018dup, NC_000010.11:g.72421014_72421018dup, NC_000010.11:g.72421013_72421018dup, NC_000010.11:g.72421012_72421018dup, NC_000010.11:g.72421011_72421018dup, NC_000010.11:g.72421010_72421018dup, NC_000010.11:g.72421008_72421018dup, NC_000010.11:g.72421018_72421019insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.74180770_74180776del, NC_000010.10:g.74180773_74180776del, NC_000010.10:g.74180774_74180776del, NC_000010.10:g.74180775_74180776del, NC_000010.10:g.74180776del, NC_000010.10:g.74180776dup, NC_000010.10:g.74180775_74180776dup, NC_000010.10:g.74180774_74180776dup, NC_000010.10:g.74180773_74180776dup, NC_000010.10:g.74180772_74180776dup, NC_000010.10:g.74180771_74180776dup, NC_000010.10:g.74180770_74180776dup, NC_000010.10:g.74180769_74180776dup, NC_000010.10:g.74180768_74180776dup, NC_000010.10:g.74180766_74180776dup, NC_000010.10:g.74180776_74180777insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033179.1:g.210183_210189del, NG_033179.1:g.210186_210189del, NG_033179.1:g.210187_210189del, NG_033179.1:g.210188_210189del, NG_033179.1:g.210189del, NG_033179.1:g.210189dup, NG_033179.1:g.210188_210189dup, NG_033179.1:g.210187_210189dup, NG_033179.1:g.210186_210189dup, NG_033179.1:g.210185_210189dup, NG_033179.1:g.210184_210189dup, NG_033179.1:g.210183_210189dup, NG_033179.1:g.210182_210189dup, NG_033179.1:g.210181_210189dup, NG_033179.1:g.210179_210189dup, NG_033179.1:g.210189_210190insTTTTTTTTTTTTTTTTTTTTTTTTTT
                                16.

                                rs1491428653 has merged into rs538552469 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTTTT>-,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  10:72458889 (GRCh38)
                                  10:74218647 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:72458879:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  MICU1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTT=0./0 (ALFA)
                                  HGVS:
                                  NC_000010.11:g.72458889_72458897del, NC_000010.11:g.72458891_72458897del, NC_000010.11:g.72458895_72458897del, NC_000010.11:g.72458896_72458897del, NC_000010.11:g.72458897del, NC_000010.11:g.72458897dup, NC_000010.11:g.72458896_72458897dup, NC_000010.11:g.72458894_72458897dup, NC_000010.11:g.72458893_72458897dup, NC_000010.11:g.72458892_72458897dup, NC_000010.11:g.72458886_72458897dup, NC_000010.11:g.72458885_72458897dup, NC_000010.11:g.72458897_72458898insTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.72458897_72458898insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.74218647_74218655del, NC_000010.10:g.74218649_74218655del, NC_000010.10:g.74218653_74218655del, NC_000010.10:g.74218654_74218655del, NC_000010.10:g.74218655del, NC_000010.10:g.74218655dup, NC_000010.10:g.74218654_74218655dup, NC_000010.10:g.74218652_74218655dup, NC_000010.10:g.74218651_74218655dup, NC_000010.10:g.74218650_74218655dup, NC_000010.10:g.74218644_74218655dup, NC_000010.10:g.74218643_74218655dup, NC_000010.10:g.74218655_74218656insTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.74218655_74218656insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033179.1:g.172304_172312del, NG_033179.1:g.172306_172312del, NG_033179.1:g.172310_172312del, NG_033179.1:g.172311_172312del, NG_033179.1:g.172312del, NG_033179.1:g.172312dup, NG_033179.1:g.172311_172312dup, NG_033179.1:g.172309_172312dup, NG_033179.1:g.172308_172312dup, NG_033179.1:g.172307_172312dup, NG_033179.1:g.172301_172312dup, NG_033179.1:g.172300_172312dup, NG_033179.1:g.172312_172313insAAAAAAAAAAAAAAAAAAA, NG_033179.1:g.172312_172313insAAAAAAAAAAAAAAAAAAAAAAAAA
                                  17.

                                  rs1491417129 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    10:72495655 (GRCh38)
                                    10:74255413 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:72495654:CA:
                                    Gene:
                                    MICU1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0.00438/52 (ALFA)
                                    HGVS:
                                    18.

                                    rs1491389638 [Homo sapiens]
                                      Variant type:
                                      INS
                                      Alleles:
                                      ->C,CAC [Show Flanks]
                                      Chromosome:
                                      10:72489324 (GRCh38)
                                      10:74249083 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:72489324::C,NC_000010.11:72489324::CAC
                                      Gene:
                                      MICU1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CAC=0./0 (ALFA)
                                      C=0.00191/32 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1491381744 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AG>- [Show Flanks]
                                        Chromosome:
                                        10:72573388 (GRCh38)
                                        10:74333146 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:72573387:AG:
                                        Gene:
                                        MICU1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        -=0.0054/21 (ALSPAC)
                                        -=0.0086/32 (TWINSUK)
                                        HGVS:
                                        20.

                                        rs1491376449 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GT>- [Show Flanks]
                                          Chromosome:
                                          10:72465309 (GRCh38)
                                          10:74225067 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:72465307:TGT:T
                                          Gene:
                                          MICU1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...