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Items: 1 to 20 of 14872

1.

rs1491586916 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    3:191246067 (GRCh38)
    3:190963856 (GRCh37)
    Canonical SPDI:
    NC_000003.12:191246066:CA:
    Gene:
    OSTN (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.02015/239 (ALFA)
    -=0.00074/26 (GnomAD)
    -=0.00346/97 (TOMMO)
    HGVS:
    2.

    rs1491575301 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      3:191214436 (GRCh38)
      3:190932225 (GRCh37)
      Canonical SPDI:
      NC_000003.12:191214435:CA:
      Gene:
      OSTN (Varview), OSTN-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491572994 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->TTTTTTTTTGTTTTTTTTTTTTTT
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491568322 has merged into rs1384565196 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AA>-,AAAA [Show Flanks]
          Chromosome:
          3:191232524 (GRCh38)
          3:190950313 (GRCh37)
          Canonical SPDI:
          NC_000003.12:191232521:AAAA:AA,NC_000003.12:191232521:AAAA:AAAAAA
          Gene:
          OSTN (Varview), OSTN-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAA=0.00006/1 (ALFA)
          -=0.00016/1 (1000Genomes)
          -=0.00022/1 (Estonian)
          HGVS:
          5.

          rs1491440047 has merged into rs150259369 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
            Chromosome:
            3:191232614 (GRCh38)
            3:190950403 (GRCh37)
            Canonical SPDI:
            NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
            Gene:
            OSTN (Varview), OSTN-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTT=0./0 (ALFA)
            -=0.1762/99 (NorthernSweden)
            HGVS:
            6.

            rs1491426801 has merged into rs575332839 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              3:191241179 (GRCh38)
              3:190958968 (GRCh37)
              Canonical SPDI:
              NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              OSTN (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTT=0./0 (ALFA)
              -=0.0192/96 (1000Genomes)
              -=0.175/7 (GENOME_DK)
              HGVS:
              NC_000003.12:g.191241179_191241196del, NC_000003.12:g.191241180_191241196del, NC_000003.12:g.191241181_191241196del, NC_000003.12:g.191241182_191241196del, NC_000003.12:g.191241183_191241196del, NC_000003.12:g.191241184_191241196del, NC_000003.12:g.191241185_191241196del, NC_000003.12:g.191241186_191241196del, NC_000003.12:g.191241187_191241196del, NC_000003.12:g.191241188_191241196del, NC_000003.12:g.191241189_191241196del, NC_000003.12:g.191241190_191241196del, NC_000003.12:g.191241191_191241196del, NC_000003.12:g.191241192_191241196del, NC_000003.12:g.191241193_191241196del, NC_000003.12:g.191241194_191241196del, NC_000003.12:g.191241195_191241196del, NC_000003.12:g.191241196del, NC_000003.12:g.191241196dup, NC_000003.12:g.191241195_191241196dup, NC_000003.12:g.191241194_191241196dup, NC_000003.12:g.191241193_191241196dup, NC_000003.12:g.191241192_191241196dup, NC_000003.12:g.191241191_191241196dup, NC_000003.12:g.191241189_191241196dup, NC_000003.12:g.191241187_191241196dup, NC_000003.12:g.191241186_191241196dup, NC_000003.12:g.191241185_191241196dup, NC_000003.12:g.191241184_191241196dup, NC_000003.12:g.191241182_191241196dup, NC_000003.12:g.191241181_191241196dup, NC_000003.12:g.191241178_191241196dup, NC_000003.12:g.191241177_191241196dup, NC_000003.12:g.191241176_191241196dup, NC_000003.12:g.191241175_191241196dup, NC_000003.12:g.191241174_191241196dup, NC_000003.12:g.191241173_191241196dup, NC_000003.12:g.191241172_191241196dup, NC_000003.12:g.191241171_191241196dup, NC_000003.12:g.191241169_191241196dup, NC_000003.12:g.191241168_191241196dup, NC_000003.12:g.191241196_191241197insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.191241196_191241197insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190958968_190958985del, NC_000003.11:g.190958969_190958985del, NC_000003.11:g.190958970_190958985del, NC_000003.11:g.190958971_190958985del, NC_000003.11:g.190958972_190958985del, NC_000003.11:g.190958973_190958985del, NC_000003.11:g.190958974_190958985del, NC_000003.11:g.190958975_190958985del, NC_000003.11:g.190958976_190958985del, NC_000003.11:g.190958977_190958985del, NC_000003.11:g.190958978_190958985del, NC_000003.11:g.190958979_190958985del, NC_000003.11:g.190958980_190958985del, NC_000003.11:g.190958981_190958985del, NC_000003.11:g.190958982_190958985del, NC_000003.11:g.190958983_190958985del, NC_000003.11:g.190958984_190958985del, NC_000003.11:g.190958985del, NC_000003.11:g.190958985dup, NC_000003.11:g.190958984_190958985dup, NC_000003.11:g.190958983_190958985dup, NC_000003.11:g.190958982_190958985dup, NC_000003.11:g.190958981_190958985dup, NC_000003.11:g.190958980_190958985dup, NC_000003.11:g.190958978_190958985dup, NC_000003.11:g.190958976_190958985dup, NC_000003.11:g.190958975_190958985dup, NC_000003.11:g.190958974_190958985dup, NC_000003.11:g.190958973_190958985dup, NC_000003.11:g.190958971_190958985dup, NC_000003.11:g.190958970_190958985dup, NC_000003.11:g.190958967_190958985dup, NC_000003.11:g.190958966_190958985dup, NC_000003.11:g.190958965_190958985dup, NC_000003.11:g.190958964_190958985dup, NC_000003.11:g.190958963_190958985dup, NC_000003.11:g.190958962_190958985dup, NC_000003.11:g.190958961_190958985dup, NC_000003.11:g.190958960_190958985dup, NC_000003.11:g.190958958_190958985dup, NC_000003.11:g.190958957_190958985dup, NC_000003.11:g.190958985_190958986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190958985_190958986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              7.

              rs1491388794 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AT>- [Show Flanks]
                Chromosome:
                3:191212775 (GRCh38)
                3:190930564 (GRCh37)
                Canonical SPDI:
                NC_000003.12:191212770:ATATAT:ATAT
                Gene:
                OSTN (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ATAT=0.000084/1 (ALFA)
                -=0.000037/5 (GnomAD)
                -=0.000519/2 (ALSPAC)
                -=0.000539/2 (TWINSUK)
                HGVS:
                8.

                rs1491337885 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CT>- [Show Flanks]
                  Chromosome:
                  3:191256627 (GRCh38)
                  3:190974416 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:191256626:CT:
                  Gene:
                  OSTN (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491322774 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->C,CTC [Show Flanks]
                    Chromosome:
                    3:191212868 (GRCh38)
                    3:190930658 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:191212868::C,NC_000003.12:191212868::CTC
                    Gene:
                    OSTN (Varview), OSTN-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CTC=0./0 (ALFA)
                    CTC=0.00005/2 (GnomAD)
                    HGVS:
                    10.

                    rs1491317971 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CT [Show Flanks]
                      Chromosome:
                      3:191259853 (GRCh38)
                      3:190977643 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:191259853:T:TCT
                      Gene:
                      OSTN (Varview)
                      Functional Consequence:
                      intron_variant
                      HGVS:
                      11.

                      rs1491300209 has merged into rs34341899 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        3:191259211 (GRCh38)
                        3:190977000 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        OSTN (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTTTTTTTTT=0./0 (ALFA)
                        -=0.1472/737 (1000Genomes)
                        HGVS:
                        12.

                        rs1491291421 has merged into rs397991965 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                          Chromosome:
                          3:191212875 (GRCh38)
                          3:190930664 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                          Gene:
                          OSTN (Varview), OSTN-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,500B_downstream_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTT=0./0 (ALFA)
                          HGVS:
                          NC_000003.12:g.191212875_191212888del, NC_000003.12:g.191212878_191212888del, NC_000003.12:g.191212879_191212888del, NC_000003.12:g.191212880_191212888del, NC_000003.12:g.191212882_191212888del, NC_000003.12:g.191212885_191212888del, NC_000003.12:g.191212887_191212888del, NC_000003.12:g.191212888del, NC_000003.12:g.191212888dup, NC_000003.12:g.191212887_191212888dup, NC_000003.12:g.191212886_191212888dup, NC_000003.12:g.191212885_191212888dup, NC_000003.12:g.191212884_191212888dup, NC_000003.12:g.191212883_191212888dup, NC_000003.12:g.191212882_191212888dup, NC_000003.12:g.191212881_191212888dup, NC_000003.12:g.191212879_191212888dup, NC_000003.12:g.191212878_191212888dup, NC_000003.12:g.191212877_191212888dup, NC_000003.12:g.191212876_191212888dup, NC_000003.12:g.191212874_191212888dup, NC_000003.12:g.191212873_191212888dup, NC_000003.12:g.191212872_191212888dup, NC_000003.12:g.191212871_191212888dup, NC_000003.12:g.191212869_191212888dup, NC_000003.12:g.191212868_191212888dup, NC_000003.12:g.191212888_191212889insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.191212888_191212889insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190930664_190930677del, NC_000003.11:g.190930667_190930677del, NC_000003.11:g.190930668_190930677del, NC_000003.11:g.190930669_190930677del, NC_000003.11:g.190930671_190930677del, NC_000003.11:g.190930674_190930677del, NC_000003.11:g.190930676_190930677del, NC_000003.11:g.190930677del, NC_000003.11:g.190930677dup, NC_000003.11:g.190930676_190930677dup, NC_000003.11:g.190930675_190930677dup, NC_000003.11:g.190930674_190930677dup, NC_000003.11:g.190930673_190930677dup, NC_000003.11:g.190930672_190930677dup, NC_000003.11:g.190930671_190930677dup, NC_000003.11:g.190930670_190930677dup, NC_000003.11:g.190930668_190930677dup, NC_000003.11:g.190930667_190930677dup, NC_000003.11:g.190930666_190930677dup, NC_000003.11:g.190930665_190930677dup, NC_000003.11:g.190930663_190930677dup, NC_000003.11:g.190930662_190930677dup, NC_000003.11:g.190930661_190930677dup, NC_000003.11:g.190930660_190930677dup, NC_000003.11:g.190930658_190930677dup, NC_000003.11:g.190930657_190930677dup, NC_000003.11:g.190930677_190930678insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190930677_190930678insTTTTTTTTTTTTTTTTTTTTTTTTTTT
                          13.

                          rs1491280177 has merged into rs200599634 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TT>-,T,TTT,TTTT [Show Flanks]
                            Chromosome:
                            3:191256639 (GRCh38)
                            3:190974428 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:191256627:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:191256627:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:191256627:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:191256627:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
                            Gene:
                            OSTN (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTTTTT=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491275286 has merged into rs149962240 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              3:191246078 (GRCh38)
                              3:190963867 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              OSTN (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAA=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000003.12:g.191246078_191246092del, NC_000003.12:g.191246079_191246092del, NC_000003.12:g.191246080_191246092del, NC_000003.12:g.191246081_191246092del, NC_000003.12:g.191246082_191246092del, NC_000003.12:g.191246083_191246092del, NC_000003.12:g.191246084_191246092del, NC_000003.12:g.191246085_191246092del, NC_000003.12:g.191246086_191246092del, NC_000003.12:g.191246087_191246092del, NC_000003.12:g.191246088_191246092del, NC_000003.12:g.191246089_191246092del, NC_000003.12:g.191246090_191246092del, NC_000003.12:g.191246091_191246092del, NC_000003.12:g.191246092del, NC_000003.12:g.191246092dup, NC_000003.12:g.191246091_191246092dup, NC_000003.12:g.191246090_191246092dup, NC_000003.12:g.191246089_191246092dup, NC_000003.12:g.191246086_191246092dup, NC_000003.12:g.191246085_191246092dup, NC_000003.12:g.191246077_191246092dup, NC_000003.12:g.191246068_191246092dup, NC_000003.12:g.191246092_191246093insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.191246092_191246093insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.190963867_190963881del, NC_000003.11:g.190963868_190963881del, NC_000003.11:g.190963869_190963881del, NC_000003.11:g.190963870_190963881del, NC_000003.11:g.190963871_190963881del, NC_000003.11:g.190963872_190963881del, NC_000003.11:g.190963873_190963881del, NC_000003.11:g.190963874_190963881del, NC_000003.11:g.190963875_190963881del, NC_000003.11:g.190963876_190963881del, NC_000003.11:g.190963877_190963881del, NC_000003.11:g.190963878_190963881del, NC_000003.11:g.190963879_190963881del, NC_000003.11:g.190963880_190963881del, NC_000003.11:g.190963881del, NC_000003.11:g.190963881dup, NC_000003.11:g.190963880_190963881dup, NC_000003.11:g.190963879_190963881dup, NC_000003.11:g.190963878_190963881dup, NC_000003.11:g.190963875_190963881dup, NC_000003.11:g.190963874_190963881dup, NC_000003.11:g.190963866_190963881dup, NC_000003.11:g.190963857_190963881dup, NC_000003.11:g.190963881_190963882insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.190963881_190963882insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              15.

                              rs1491152408 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->T [Show Flanks]
                                Chromosome:
                                3:191255900 (GRCh38)
                                3:190973690 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:191255900:TTTTT:TTTTTT
                                Gene:
                                OSTN (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTT=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                T=0.000566/9 (TOMMO)
                                HGVS:
                                16.

                                rs1491124254 has merged into rs372562335 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  3:191259863 (GRCh38)
                                  3:190977652 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  OSTN (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTTT=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.191259863_191259870del, NC_000003.12:g.191259866_191259870del, NC_000003.12:g.191259868_191259870del, NC_000003.12:g.191259869_191259870del, NC_000003.12:g.191259870del, NC_000003.12:g.191259870dup, NC_000003.12:g.191259869_191259870dup, NC_000003.12:g.191259868_191259870dup, NC_000003.12:g.191259867_191259870dup, NC_000003.12:g.191259866_191259870dup, NC_000003.12:g.191259865_191259870dup, NC_000003.12:g.191259864_191259870dup, NC_000003.12:g.191259863_191259870dup, NC_000003.12:g.191259862_191259870dup, NC_000003.12:g.191259861_191259870dup, NC_000003.12:g.191259860_191259870dup, NC_000003.12:g.191259858_191259870dup, NC_000003.12:g.191259857_191259870dup, NC_000003.12:g.191259853_191259870dup, NC_000003.12:g.191259870_191259871insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.191259870_191259871insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.191259870_191259871insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190977652_190977659del, NC_000003.11:g.190977655_190977659del, NC_000003.11:g.190977657_190977659del, NC_000003.11:g.190977658_190977659del, NC_000003.11:g.190977659del, NC_000003.11:g.190977659dup, NC_000003.11:g.190977658_190977659dup, NC_000003.11:g.190977657_190977659dup, NC_000003.11:g.190977656_190977659dup, NC_000003.11:g.190977655_190977659dup, NC_000003.11:g.190977654_190977659dup, NC_000003.11:g.190977653_190977659dup, NC_000003.11:g.190977652_190977659dup, NC_000003.11:g.190977651_190977659dup, NC_000003.11:g.190977650_190977659dup, NC_000003.11:g.190977649_190977659dup, NC_000003.11:g.190977647_190977659dup, NC_000003.11:g.190977646_190977659dup, NC_000003.11:g.190977642_190977659dup, NC_000003.11:g.190977659_190977660insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190977659_190977660insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190977659_190977660insTTTTTTTTTTTTTTTTTTTTTTT
                                  17.

                                  rs1491068910 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    AA>- [Show Flanks]
                                    Chromosome:
                                    3:191256772 (GRCh38)
                                    3:190974561 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:191256771:AA:
                                    Gene:
                                    OSTN (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491067774 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      CA>-
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:
                                      19.

                                      rs1491033460 has merged into rs1553816617 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AT>-,ATAT,ATATAT [Show Flanks]
                                        Chromosome:
                                        3:191205458 (GRCh38)
                                        3:190923247 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:191205443:ATATATATATATATAT:ATATATATATATAT,NC_000003.12:191205443:ATATATATATATATAT:ATATATATATATATATAT,NC_000003.12:191205443:ATATATATATATATAT:ATATATATATATATATATAT
                                        Gene:
                                        OSTN (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        ATATATATATATATATATAT=0./0 (ALFA)
                                        -=0.00056/1 (Korea1K)
                                        -=0.00167/1 (NorthernSweden)
                                        AT=0.0047/77 (TOMMO)
                                        -=0.11624/448 (ALSPAC)
                                        -=0.12864/477 (TWINSUK)
                                        HGVS:
                                        20.

                                        rs1490998733 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:191258992 (GRCh38)
                                          3:190976781 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:191258991:G:A
                                          Gene:
                                          OSTN (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000019/5 (TOPMED)
                                          HGVS:

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