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 3772

1.

rs1491553234 has merged into rs745643672 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    19:54073413 (GRCh38)
    19:54576667 (GRCh37)
    Canonical SPDI:
    NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54073407:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    TARM1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAA=0./0 (ALFA)
    HGVS:
    NC_000019.10:g.54073413_54073431del, NC_000019.10:g.54073418_54073431del, NC_000019.10:g.54073419_54073431del, NC_000019.10:g.54073420_54073431del, NC_000019.10:g.54073421_54073431del, NC_000019.10:g.54073422_54073431del, NC_000019.10:g.54073423_54073431del, NC_000019.10:g.54073424_54073431del, NC_000019.10:g.54073425_54073431del, NC_000019.10:g.54073426_54073431del, NC_000019.10:g.54073427_54073431del, NC_000019.10:g.54073428_54073431del, NC_000019.10:g.54073429_54073431del, NC_000019.10:g.54073430_54073431del, NC_000019.10:g.54073431del, NC_000019.10:g.54073431dup, NC_000019.10:g.54073430_54073431dup, NC_000019.10:g.54073429_54073431dup, NC_000019.10:g.54073428_54073431dup, NC_000019.10:g.54073427_54073431dup, NC_000019.10:g.54073426_54073431dup, NC_000019.10:g.54073423_54073431dup, NW_004166865.1:g.47780_47798del, NW_004166865.1:g.47785_47798del, NW_004166865.1:g.47786_47798del, NW_004166865.1:g.47787_47798del, NW_004166865.1:g.47788_47798del, NW_004166865.1:g.47789_47798del, NW_004166865.1:g.47790_47798del, NW_004166865.1:g.47791_47798del, NW_004166865.1:g.47792_47798del, NW_004166865.1:g.47793_47798del, NW_004166865.1:g.47794_47798del, NW_004166865.1:g.47795_47798del, NW_004166865.1:g.47796_47798del, NW_004166865.1:g.47797_47798del, NW_004166865.1:g.47798del, NW_004166865.1:g.47798dup, NW_004166865.1:g.47797_47798dup, NW_004166865.1:g.47796_47798dup, NW_004166865.1:g.47795_47798dup, NW_004166865.1:g.47794_47798dup, NW_004166865.1:g.47793_47798dup, NW_004166865.1:g.47790_47798dup, NW_003571061.2:g.47795_47796dup, NW_003571061.2:g.47780_47796del, NW_003571061.2:g.47785_47796del, NW_003571061.2:g.47786_47796del, NW_003571061.2:g.47787_47796del, NW_003571061.2:g.47788_47796del, NW_003571061.2:g.47789_47796del, NW_003571061.2:g.47790_47796del, NW_003571061.2:g.47791_47796del, NW_003571061.2:g.47792_47796del, NW_003571061.2:g.47793_47796del, NW_003571061.2:g.47794_47796del, NW_003571061.2:g.47795_47796del, NW_003571061.2:g.47796del, NW_003571061.2:g.47796dup, NW_003571061.2:g.47794_47796dup, NW_003571061.2:g.47793_47796dup, NW_003571061.2:g.47792_47796dup, NW_003571061.2:g.47791_47796dup, NW_003571061.2:g.47790_47796dup, NW_003571061.2:g.47789_47796dup, NW_003571061.2:g.47786_47796dup, NW_003571055.2:g.47795_47796dup, NW_003571055.2:g.47780_47796del, NW_003571055.2:g.47785_47796del, NW_003571055.2:g.47786_47796del, NW_003571055.2:g.47787_47796del, NW_003571055.2:g.47788_47796del, NW_003571055.2:g.47789_47796del, NW_003571055.2:g.47790_47796del, NW_003571055.2:g.47791_47796del, NW_003571055.2:g.47792_47796del, NW_003571055.2:g.47793_47796del, NW_003571055.2:g.47794_47796del, NW_003571055.2:g.47795_47796del, NW_003571055.2:g.47796del, NW_003571055.2:g.47796dup, NW_003571055.2:g.47794_47796dup, NW_003571055.2:g.47793_47796dup, NW_003571055.2:g.47792_47796dup, NW_003571055.2:g.47791_47796dup, NW_003571055.2:g.47790_47796dup, NW_003571055.2:g.47789_47796dup, NW_003571055.2:g.47786_47796dup, NW_003571059.2:g.47795_47796dup, NW_003571059.2:g.47780_47796del, NW_003571059.2:g.47785_47796del, NW_003571059.2:g.47786_47796del, NW_003571059.2:g.47787_47796del, NW_003571059.2:g.47788_47796del, NW_003571059.2:g.47789_47796del, NW_003571059.2:g.47790_47796del, NW_003571059.2:g.47791_47796del, NW_003571059.2:g.47792_47796del, NW_003571059.2:g.47793_47796del, NW_003571059.2:g.47794_47796del, NW_003571059.2:g.47795_47796del, NW_003571059.2:g.47796del, NW_003571059.2:g.47796dup, NW_003571059.2:g.47794_47796dup, NW_003571059.2:g.47793_47796dup, NW_003571059.2:g.47792_47796dup, NW_003571059.2:g.47791_47796dup, NW_003571059.2:g.47790_47796dup, NW_003571059.2:g.47789_47796dup, NW_003571059.2:g.47786_47796dup, NW_003571056.2:g.47795_47796dup, NW_003571056.2:g.47780_47796del, NW_003571056.2:g.47785_47796del, NW_003571056.2:g.47786_47796del, NW_003571056.2:g.47787_47796del, NW_003571056.2:g.47788_47796del, NW_003571056.2:g.47789_47796del, NW_003571056.2:g.47790_47796del, NW_003571056.2:g.47791_47796del, NW_003571056.2:g.47792_47796del, NW_003571056.2:g.47793_47796del, NW_003571056.2:g.47794_47796del, NW_003571056.2:g.47795_47796del, NW_003571056.2:g.47796del, NW_003571056.2:g.47796dup, NW_003571056.2:g.47794_47796dup, NW_003571056.2:g.47793_47796dup, NW_003571056.2:g.47792_47796dup, NW_003571056.2:g.47791_47796dup, NW_003571056.2:g.47790_47796dup, NW_003571056.2:g.47789_47796dup, NW_003571056.2:g.47786_47796dup, NW_003571057.2:g.47795_47796dup, NW_003571057.2:g.47780_47796del, NW_003571057.2:g.47785_47796del, NW_003571057.2:g.47786_47796del, NW_003571057.2:g.47787_47796del, NW_003571057.2:g.47788_47796del, NW_003571057.2:g.47789_47796del, NW_003571057.2:g.47790_47796del, NW_003571057.2:g.47791_47796del, NW_003571057.2:g.47792_47796del, NW_003571057.2:g.47793_47796del, NW_003571057.2:g.47794_47796del, NW_003571057.2:g.47795_47796del, NW_003571057.2:g.47796del, NW_003571057.2:g.47796dup, NW_003571057.2:g.47794_47796dup, NW_003571057.2:g.47793_47796dup, NW_003571057.2:g.47792_47796dup, NW_003571057.2:g.47791_47796dup, NW_003571057.2:g.47790_47796dup, NW_003571057.2:g.47789_47796dup, NW_003571057.2:g.47786_47796dup, NW_003571058.2:g.47795_47796dup, NW_003571058.2:g.47780_47796del, NW_003571058.2:g.47785_47796del, NW_003571058.2:g.47786_47796del, NW_003571058.2:g.47787_47796del, NW_003571058.2:g.47788_47796del, NW_003571058.2:g.47789_47796del, NW_003571058.2:g.47790_47796del, NW_003571058.2:g.47791_47796del, NW_003571058.2:g.47792_47796del, NW_003571058.2:g.47793_47796del, NW_003571058.2:g.47794_47796del, NW_003571058.2:g.47795_47796del, NW_003571058.2:g.47796del, NW_003571058.2:g.47796dup, NW_003571058.2:g.47794_47796dup, NW_003571058.2:g.47793_47796dup, NW_003571058.2:g.47792_47796dup, NW_003571058.2:g.47791_47796dup, NW_003571058.2:g.47790_47796dup, NW_003571058.2:g.47789_47796dup, NW_003571058.2:g.47786_47796dup, NT_187693.1:g.47795_47796dup, NT_187693.1:g.47780_47796del, NT_187693.1:g.47785_47796del, NT_187693.1:g.47786_47796del, NT_187693.1:g.47787_47796del, NT_187693.1:g.47788_47796del, NT_187693.1:g.47789_47796del, NT_187693.1:g.47790_47796del, NT_187693.1:g.47791_47796del, NT_187693.1:g.47792_47796del, NT_187693.1:g.47793_47796del, NT_187693.1:g.47794_47796del, NT_187693.1:g.47795_47796del, NT_187693.1:g.47796del, NT_187693.1:g.47796dup, NT_187693.1:g.47794_47796dup, NT_187693.1:g.47793_47796dup, NT_187693.1:g.47792_47796dup, NT_187693.1:g.47791_47796dup, NT_187693.1:g.47790_47796dup, NT_187693.1:g.47789_47796dup, NT_187693.1:g.47786_47796dup, NW_003571060.1:g.47795_47796dup, NW_003571060.1:g.47780_47796del, NW_003571060.1:g.47785_47796del, NW_003571060.1:g.47786_47796del, NW_003571060.1:g.47787_47796del, NW_003571060.1:g.47788_47796del, NW_003571060.1:g.47789_47796del, NW_003571060.1:g.47790_47796del, NW_003571060.1:g.47791_47796del, NW_003571060.1:g.47792_47796del, NW_003571060.1:g.47793_47796del, NW_003571060.1:g.47794_47796del, NW_003571060.1:g.47795_47796del, NW_003571060.1:g.47796del, NW_003571060.1:g.47796dup, NW_003571060.1:g.47794_47796dup, NW_003571060.1:g.47793_47796dup, NW_003571060.1:g.47792_47796dup, NW_003571060.1:g.47791_47796dup, NW_003571060.1:g.47790_47796dup, NW_003571060.1:g.47789_47796dup, NW_003571060.1:g.47786_47796dup, NW_003571054.1:g.47795_47796dup, NW_003571054.1:g.47780_47796del, NW_003571054.1:g.47785_47796del, NW_003571054.1:g.47786_47796del, NW_003571054.1:g.47787_47796del, NW_003571054.1:g.47788_47796del, NW_003571054.1:g.47789_47796del, NW_003571054.1:g.47790_47796del, NW_003571054.1:g.47791_47796del, NW_003571054.1:g.47792_47796del, NW_003571054.1:g.47793_47796del, NW_003571054.1:g.47794_47796del, NW_003571054.1:g.47795_47796del, NW_003571054.1:g.47796del, NW_003571054.1:g.47796dup, NW_003571054.1:g.47794_47796dup, NW_003571054.1:g.47793_47796dup, NW_003571054.1:g.47792_47796dup, NW_003571054.1:g.47791_47796dup, NW_003571054.1:g.47790_47796dup, NW_003571054.1:g.47789_47796dup, NW_003571054.1:g.47786_47796dup, NC_000019.9:g.54576682_54576683dup, NC_000019.9:g.54576667_54576683del, NC_000019.9:g.54576672_54576683del, NC_000019.9:g.54576673_54576683del, NC_000019.9:g.54576674_54576683del, NC_000019.9:g.54576675_54576683del, NC_000019.9:g.54576676_54576683del, NC_000019.9:g.54576677_54576683del, NC_000019.9:g.54576678_54576683del, NC_000019.9:g.54576679_54576683del, NC_000019.9:g.54576680_54576683del, NC_000019.9:g.54576681_54576683del, NC_000019.9:g.54576682_54576683del, NC_000019.9:g.54576683del, NC_000019.9:g.54576683dup, NC_000019.9:g.54576681_54576683dup, NC_000019.9:g.54576680_54576683dup, NC_000019.9:g.54576679_54576683dup, NC_000019.9:g.54576678_54576683dup, NC_000019.9:g.54576677_54576683dup, NC_000019.9:g.54576676_54576683dup, NC_000019.9:g.54576673_54576683dup, NW_003571061.1:g.47795_47796dup, NW_003571061.1:g.47780_47796del, NW_003571061.1:g.47785_47796del, NW_003571061.1:g.47786_47796del, NW_003571061.1:g.47787_47796del, NW_003571061.1:g.47788_47796del, NW_003571061.1:g.47789_47796del, NW_003571061.1:g.47790_47796del, NW_003571061.1:g.47791_47796del, NW_003571061.1:g.47792_47796del, NW_003571061.1:g.47793_47796del, NW_003571061.1:g.47794_47796del, NW_003571061.1:g.47795_47796del, NW_003571061.1:g.47796del, NW_003571061.1:g.47796dup, NW_003571061.1:g.47794_47796dup, NW_003571061.1:g.47793_47796dup, NW_003571061.1:g.47792_47796dup, NW_003571061.1:g.47791_47796dup, NW_003571061.1:g.47790_47796dup, NW_003571061.1:g.47789_47796dup, NW_003571061.1:g.47786_47796dup

    2.

    rs1491541511 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->AAAGAAAGAAAGAAAGAAGAAAG [Show Flanks]
      Chromosome:
      19:54080135 (GRCh38)
      19:54583413 (GRCh37)
      Canonical SPDI:
      NC_000019.10:54080135:GAAGAAAG:GAAGAAAGAAAGAAAGAAAGAAAGAAGAAAG
      Gene:
      TARM1 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      HGVS:
      NC_000019.10:g.54080136_54080143GAA[2]AGAA[5]GAAAG[1], NW_004166865.1:g.54503_54510GAA[2]AGAA[5]GAAAG[1], NW_003571061.2:g.54526A>G, NW_003571061.2:g.54526delinsGAAGAAAGAAAGAAAGAAAGAAAG, NW_003571055.2:g.54526A>G, NW_003571055.2:g.54526delinsGAAGAAAGAAAGAAAGAAAGAAAG, NC_000019.9:g.54583413A>G, NC_000019.9:g.54583413delinsGAAGAAAGAAAGAAAGAAAGAAAG, NW_003571059.2:g.54526A>G, NW_003571059.2:g.54526delinsGAAGAAAGAAAGAAAGAAAGAAAG, NW_003571056.2:g.54526A>G, NW_003571056.2:g.54526delinsGAAGAAAGAAAGAAAGAAAGAAAG, NW_003571061.1:g.54526A>G, NW_003571061.1:g.54526delinsGAAGAAAGAAAGAAAGAAAGAAAG, NW_003571057.2:g.54526A>G, NW_003571057.2:g.54526delinsGAAGAAAGAAAGAAAGAAAGAAAG, NW_003571058.2:g.54526A>G, NW_003571058.2:g.54526delinsGAAGAAAGAAAGAAAGAAAGAAAG, NT_187693.1:g.54526A>G, NT_187693.1:g.54526delinsGAAGAAAGAAAGAAAGAAAGAAAG, NW_003571060.1:g.54526A>G, NW_003571060.1:g.54526delinsGAAGAAAGAAAGAAAGAAAGAAAG, NW_003571054.1:g.54526A>G, NW_003571054.1:g.54526delinsGAAGAAAGAAAGAAAGAAAGAAAG

      3.

      rs1491493452 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GC>- [Show Flanks]
        Chromosome:
        19:54080167 (GRCh38)
        19:54583445 (GRCh37)
        Canonical SPDI:
        NC_000019.10:54080166:GC:
        Gene:
        TARM1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:

        4.

        rs1491466943 has merged into rs1215991944 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AA>-,AAAA [Show Flanks]
          Chromosome:
          19:54080089 (GRCh38)
          19:54583366 (GRCh37)
          Canonical SPDI:
          NC_000019.10:54080087:AAA:A,NC_000019.10:54080087:AAA:AAAAA
          Gene:
          TARM1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAA=0./0 (ALFA)
          -=0.00006/1 (TOMMO)
          -=0.00035/22 (GnomAD)
          HGVS:
          NC_000019.10:g.54080089_54080090del, NC_000019.10:g.54080089_54080090dup, NW_004166865.1:g.54456_54457del, NW_004166865.1:g.54456_54457dup, NW_003571061.2:g.54479_54480del, NW_003571061.2:g.54479_54480dup, NW_003571055.2:g.54479_54480del, NW_003571055.2:g.54479_54480dup, NC_000019.9:g.54583366_54583367del, NC_000019.9:g.54583366_54583367dup, NW_003571059.2:g.54479_54480del, NW_003571059.2:g.54479_54480dup, NW_003571056.2:g.54479_54480del, NW_003571056.2:g.54479_54480dup, NW_003571061.1:g.54479_54480del, NW_003571061.1:g.54479_54480dup, NW_003571057.2:g.54479_54480del, NW_003571057.2:g.54479_54480dup, NW_003571058.2:g.54479_54480del, NW_003571058.2:g.54479_54480dup, NT_187693.1:g.54479_54480del, NT_187693.1:g.54479_54480dup, NW_003571060.1:g.54479_54480del, NW_003571060.1:g.54479_54480dup, NW_003571054.1:g.54479_54480del, NW_003571054.1:g.54479_54480dup

          5.

          rs1491458965 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            G>AAA [Show Flanks]
            Chromosome:
            19:54080132 (GRCh38)
            19:54583409 (GRCh37)
            Canonical SPDI:
            NC_000019.10:54080131:G:AAA
            Gene:
            TARM1 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            HGVS:

            6.

            rs1491453525 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GGA,GGAAGGA,GGAAGGAAGGA,GGAAGGAAGGAAGGA,GGAAGGAAGGAAGGAAGGA [Show Flanks]
              Chromosome:
              19:54080088 (GRCh38)
              19:54583366 (GRCh37)
              Canonical SPDI:
              NC_000019.10:54080088:A:AGGA,NC_000019.10:54080088:A:AGGAAGGA,NC_000019.10:54080088:A:AGGAAGGAAGGA,NC_000019.10:54080088:A:AGGAAGGAAGGAAGGA,NC_000019.10:54080088:A:AGGAAGGAAGGAAGGAAGGA
              Gene:
              TARM1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by cluster
              HGVS:
              NC_000019.10:g.54080089_54080090insGGA, NC_000019.10:g.54080089_54080090insGGAAGGA, NC_000019.10:g.54080089_54080090insGGAAGGAAGGA, NC_000019.10:g.54080089_54080090insGGAAGGAAGGAAGGA, NC_000019.10:g.54080089_54080090insGGAAGGAAGGAAGGAAGGA, NW_004166865.1:g.54456_54457insGGA, NW_004166865.1:g.54456_54457insGGAAGGA, NW_004166865.1:g.54456_54457insGGAAGGAAGGA, NW_004166865.1:g.54456_54457insGGAAGGAAGGAAGGA, NW_004166865.1:g.54456_54457insGGAAGGAAGGAAGGAAGGA, NW_003571061.2:g.54479_54480insGGA, NW_003571061.2:g.54479_54480insGGAAGGA, NW_003571061.2:g.54479_54480insGGAAGGAAGGA, NW_003571061.2:g.54479_54480insGGAAGGAAGGAAGGA, NW_003571061.2:g.54479_54480insGGAAGGAAGGAAGGAAGGA, NW_003571055.2:g.54479_54480insGGA, NW_003571055.2:g.54479_54480insGGAAGGA, NW_003571055.2:g.54479_54480insGGAAGGAAGGA, NW_003571055.2:g.54479_54480insGGAAGGAAGGAAGGA, NW_003571055.2:g.54479_54480insGGAAGGAAGGAAGGAAGGA, NC_000019.9:g.54583366_54583367insGGA, NC_000019.9:g.54583366_54583367insGGAAGGA, NC_000019.9:g.54583366_54583367insGGAAGGAAGGA, NC_000019.9:g.54583366_54583367insGGAAGGAAGGAAGGA, NC_000019.9:g.54583366_54583367insGGAAGGAAGGAAGGAAGGA, NW_003571059.2:g.54479_54480insGGA, NW_003571059.2:g.54479_54480insGGAAGGA, NW_003571059.2:g.54479_54480insGGAAGGAAGGA, NW_003571059.2:g.54479_54480insGGAAGGAAGGAAGGA, NW_003571059.2:g.54479_54480insGGAAGGAAGGAAGGAAGGA, NW_003571056.2:g.54479_54480insGGA, NW_003571056.2:g.54479_54480insGGAAGGA, NW_003571056.2:g.54479_54480insGGAAGGAAGGA, NW_003571056.2:g.54479_54480insGGAAGGAAGGAAGGA, NW_003571056.2:g.54479_54480insGGAAGGAAGGAAGGAAGGA, NW_003571061.1:g.54479_54480insGGA, NW_003571061.1:g.54479_54480insGGAAGGA, NW_003571061.1:g.54479_54480insGGAAGGAAGGA, NW_003571061.1:g.54479_54480insGGAAGGAAGGAAGGA, NW_003571061.1:g.54479_54480insGGAAGGAAGGAAGGAAGGA, NW_003571057.2:g.54479_54480insGGA, NW_003571057.2:g.54479_54480insGGAAGGA, NW_003571057.2:g.54479_54480insGGAAGGAAGGA, NW_003571057.2:g.54479_54480insGGAAGGAAGGAAGGA, NW_003571057.2:g.54479_54480insGGAAGGAAGGAAGGAAGGA, NW_003571058.2:g.54479_54480insGGA, NW_003571058.2:g.54479_54480insGGAAGGA, NW_003571058.2:g.54479_54480insGGAAGGAAGGA, NW_003571058.2:g.54479_54480insGGAAGGAAGGAAGGA, NW_003571058.2:g.54479_54480insGGAAGGAAGGAAGGAAGGA, NT_187693.1:g.54479_54480insGGA, NT_187693.1:g.54479_54480insGGAAGGA, NT_187693.1:g.54479_54480insGGAAGGAAGGA, NT_187693.1:g.54479_54480insGGAAGGAAGGAAGGA, NT_187693.1:g.54479_54480insGGAAGGAAGGAAGGAAGGA, NW_003571060.1:g.54479_54480insGGA, NW_003571060.1:g.54479_54480insGGAAGGA, NW_003571060.1:g.54479_54480insGGAAGGAAGGA, NW_003571060.1:g.54479_54480insGGAAGGAAGGAAGGA, NW_003571060.1:g.54479_54480insGGAAGGAAGGAAGGAAGGA, NW_003571054.1:g.54479_54480insGGA, NW_003571054.1:g.54479_54480insGGAAGGA, NW_003571054.1:g.54479_54480insGGAAGGAAGGA, NW_003571054.1:g.54479_54480insGGAAGGAAGGAAGGA, NW_003571054.1:g.54479_54480insGGAAGGAAGGAAGGAAGGA

              7.

              rs1491453317 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CAAG,GAAGAAAG [Show Flanks]
                Chromosome:
                19:54080136 (GRCh38)
                19:54583410 (GRCh37)
                Canonical SPDI:
                NC_000019.10:54080136:AAG:AAGCAAG,NC_000019.10:54080136:AAG:AAGGAAGAAAG
                Gene:
                TARM1 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                AAGGAAGAAAG=0./0 (ALFA)
                HGVS:
                NC_000019.10:g.54080139_54080140insCAAG, NC_000019.10:g.54080139_54080140insGAAGAAAG, NW_004166865.1:g.54506_54507insCAAG, NW_004166865.1:g.54506_54507insGAAGAAAG, NW_003571061.2:g.54529_54530insCAAG, NW_003571061.2:g.54529_54530insGAAGAAAG, NW_003571055.2:g.54529_54530insCAAG, NW_003571055.2:g.54529_54530insGAAGAAAG, NC_000019.9:g.54583416_54583417insCAAG, NC_000019.9:g.54583416_54583417insGAAGAAAG, NW_003571059.2:g.54529_54530insCAAG, NW_003571059.2:g.54529_54530insGAAGAAAG, NW_003571056.2:g.54529_54530insCAAG, NW_003571056.2:g.54529_54530insGAAGAAAG, NW_003571061.1:g.54529_54530insCAAG, NW_003571061.1:g.54529_54530insGAAGAAAG, NW_003571057.2:g.54529_54530insCAAG, NW_003571057.2:g.54529_54530insGAAGAAAG, NW_003571058.2:g.54529_54530insCAAG, NW_003571058.2:g.54529_54530insGAAGAAAG, NT_187693.1:g.54529_54530insCAAG, NT_187693.1:g.54529_54530insGAAGAAAG, NW_003571060.1:g.54529_54530insCAAG, NW_003571060.1:g.54529_54530insGAAGAAAG, NW_003571054.1:g.54529_54530insCAAG, NW_003571054.1:g.54529_54530insGAAGAAAG

                8.

                rs1491409703 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GG>- [Show Flanks]
                  Chromosome:
                  19:54080135 (GRCh38)
                  19:54583413 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:54080134:GG:
                  Gene:
                  TARM1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.00025/3 (ALFA)
                  -=0.00022/14 (GnomAD)
                  HGVS:

                  9.

                  rs1491386194 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    GC>- [Show Flanks]
                    Chromosome:
                    19:54080159 (GRCh38)
                    19:54583437 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:54080158:GC:
                    Gene:
                    TARM1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000019/2 (GnomAD)
                    HGVS:

                    10.

                    rs1491374644 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>AAA [Show Flanks]
                      Chromosome:
                      19:54080152 (GRCh38)
                      19:54583429 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:54080151:C:AAA
                      Gene:
                      TARM1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by cluster
                      HGVS:

                      11.

                      rs1491366527 has merged into rs1162488725 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        19:54079106 (GRCh38)
                        19:54582371 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:54079092:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:54079092:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:54079092:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:54079092:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:54079092:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:54079092:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:54079092:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54079092:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54079092:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        TARM1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAAAAAA=0./0 (ALFA)
                        HGVS:
                        NC_000019.10:g.54079106_54079113del, NC_000019.10:g.54079109_54079113del, NC_000019.10:g.54079110_54079113del, NC_000019.10:g.54079111_54079113del, NC_000019.10:g.54079112_54079113del, NC_000019.10:g.54079113del, NC_000019.10:g.54079113dup, NC_000019.10:g.54079112_54079113dup, NC_000019.10:g.54079110_54079113dup, NW_004166865.1:g.53473_53480del, NW_004166865.1:g.53476_53480del, NW_004166865.1:g.53477_53480del, NW_004166865.1:g.53478_53480del, NW_004166865.1:g.53479_53480del, NW_004166865.1:g.53480del, NW_004166865.1:g.53480dup, NW_004166865.1:g.53479_53480dup, NW_004166865.1:g.53477_53480dup, NW_003571061.2:g.53490dup, NW_003571061.2:g.53484_53490del, NW_003571061.2:g.53487_53490del, NW_003571061.2:g.53488_53490del, NW_003571061.2:g.53489_53490del, NW_003571061.2:g.53490del, NW_003571061.2:g.53489_53490dup, NW_003571061.2:g.53488_53490dup, NW_003571061.2:g.53486_53490dup, NW_003571055.2:g.53490dup, NW_003571055.2:g.53484_53490del, NW_003571055.2:g.53487_53490del, NW_003571055.2:g.53488_53490del, NW_003571055.2:g.53489_53490del, NW_003571055.2:g.53490del, NW_003571055.2:g.53489_53490dup, NW_003571055.2:g.53488_53490dup, NW_003571055.2:g.53486_53490dup, NW_003571059.2:g.53490dup, NW_003571059.2:g.53484_53490del, NW_003571059.2:g.53487_53490del, NW_003571059.2:g.53488_53490del, NW_003571059.2:g.53489_53490del, NW_003571059.2:g.53490del, NW_003571059.2:g.53489_53490dup, NW_003571059.2:g.53488_53490dup, NW_003571059.2:g.53486_53490dup, NW_003571056.2:g.53490dup, NW_003571056.2:g.53484_53490del, NW_003571056.2:g.53487_53490del, NW_003571056.2:g.53488_53490del, NW_003571056.2:g.53489_53490del, NW_003571056.2:g.53490del, NW_003571056.2:g.53489_53490dup, NW_003571056.2:g.53488_53490dup, NW_003571056.2:g.53486_53490dup, NW_003571057.2:g.53490dup, NW_003571057.2:g.53484_53490del, NW_003571057.2:g.53487_53490del, NW_003571057.2:g.53488_53490del, NW_003571057.2:g.53489_53490del, NW_003571057.2:g.53490del, NW_003571057.2:g.53489_53490dup, NW_003571057.2:g.53488_53490dup, NW_003571057.2:g.53486_53490dup, NW_003571058.2:g.53490dup, NW_003571058.2:g.53484_53490del, NW_003571058.2:g.53487_53490del, NW_003571058.2:g.53488_53490del, NW_003571058.2:g.53489_53490del, NW_003571058.2:g.53490del, NW_003571058.2:g.53489_53490dup, NW_003571058.2:g.53488_53490dup, NW_003571058.2:g.53486_53490dup, NT_187693.1:g.53490dup, NT_187693.1:g.53484_53490del, NT_187693.1:g.53487_53490del, NT_187693.1:g.53488_53490del, NT_187693.1:g.53489_53490del, NT_187693.1:g.53490del, NT_187693.1:g.53489_53490dup, NT_187693.1:g.53488_53490dup, NT_187693.1:g.53486_53490dup, NW_003571060.1:g.53490dup, NW_003571060.1:g.53484_53490del, NW_003571060.1:g.53487_53490del, NW_003571060.1:g.53488_53490del, NW_003571060.1:g.53489_53490del, NW_003571060.1:g.53490del, NW_003571060.1:g.53489_53490dup, NW_003571060.1:g.53488_53490dup, NW_003571060.1:g.53486_53490dup, NW_003571054.1:g.53490dup, NW_003571054.1:g.53484_53490del, NW_003571054.1:g.53487_53490del, NW_003571054.1:g.53488_53490del, NW_003571054.1:g.53489_53490del, NW_003571054.1:g.53490del, NW_003571054.1:g.53489_53490dup, NW_003571054.1:g.53488_53490dup, NW_003571054.1:g.53486_53490dup, NC_000019.9:g.54582377dup, NC_000019.9:g.54582371_54582377del, NC_000019.9:g.54582374_54582377del, NC_000019.9:g.54582375_54582377del, NC_000019.9:g.54582376_54582377del, NC_000019.9:g.54582377del, NC_000019.9:g.54582376_54582377dup, NC_000019.9:g.54582375_54582377dup, NC_000019.9:g.54582373_54582377dup, NW_003571061.1:g.53490dup, NW_003571061.1:g.53484_53490del, NW_003571061.1:g.53487_53490del, NW_003571061.1:g.53488_53490del, NW_003571061.1:g.53489_53490del, NW_003571061.1:g.53490del, NW_003571061.1:g.53489_53490dup, NW_003571061.1:g.53488_53490dup, NW_003571061.1:g.53486_53490dup

                        12.

                        Error occurred: cannot get document summary

                        13.

                        rs1491300845 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          GA>- [Show Flanks]
                          Chromosome:
                          19:54080136 (GRCh38)
                          19:54583413 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:54080135:GA:
                          Gene:
                          TARM1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          -=0.00005/1 (TOMMO)
                          HGVS:

                          14.

                          rs1491284033 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->T
                            Chromosome:
                            no mapping
                            Canonical SPDI:

                            15.

                            rs1491270119 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              GC>- [Show Flanks]
                              Chromosome:
                              19:54080151 (GRCh38)
                              19:54583429 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:54080150:GC:
                              Gene:
                              TARM1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0.00006/1 (ALFA)
                              HGVS:

                              16.

                              rs1491266553 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TA>- [Show Flanks]
                                Chromosome:
                                19:54079092 (GRCh38)
                                19:54582357 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:54079091:TA:
                                Gene:
                                TARM1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                HGVS:

                                17.

                                rs1491227049 has merged into rs879985787 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  GG>- [Show Flanks]
                                  Chromosome:
                                  19:54080131 (GRCh38)
                                  19:54583409 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:54080130:GG:
                                  Gene:
                                  TARM1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.0032/38 (ALFA)
                                  -=0.00143/74 (GnomAD)
                                  HGVS:

                                  18.

                                  rs1491215386 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->C [Show Flanks]
                                    Chromosome:
                                    19:54080159 (GRCh38)
                                    19:54583437 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:54080159:C:CC
                                    Gene:
                                    TARM1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    HGVS:

                                    19.

                                    rs1491182571 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->C [Show Flanks]
                                      Chromosome:
                                      19:54080167 (GRCh38)
                                      19:54583445 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:54080167:C:CC
                                      Gene:
                                      TARM1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      HGVS:

                                      20.

                                      rs1491117520 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        19:54073407 (GRCh38)
                                        19:54576661 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:54073406:CA:
                                        Gene:
                                        TARM1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0.00093/11 (ALFA)
                                        -=0.00007/2 (TOMMO)
                                        HGVS:

                                        Display Settings:

                                        Format
                                        Items per page
                                        Sort by

                                        Send to:

                                        Choose Destination

                                        Supplemental Content

                                        Filters: Manage Filters

                                        Find related data

                                        Recent activity

                                        Clear Turn Off Turn On

                                        Your browsing activity is empty.

                                        Activity recording is turned off.

                                        Turn recording back on

                                        See more...