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Items: 1 to 20 of 1000

1.

rs1491438174 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    15:73739868 (GRCh38)
    15:74032210 (GRCh37)
    Canonical SPDI:
    NC_000015.10:73739868::A
    Gene:
    INSYN1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000637/11 (TOMMO)
    A=0.001154/151 (GnomAD)
    HGVS:

    2.

    rs1491394676 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->G
      Chromosome:
      no mapping
      Canonical SPDI:

      3.

      rs1491304855 has merged into rs71434209 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAAAAAAAAAAAAAAAA>-,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        15:73743831 (GRCh38)
        15:74036172 (GRCh37)
        Canonical SPDI:
        NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73743828:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        INSYN1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AA=0./0 (ALFA)
        HGVS:
        NC_000015.10:g.73743831_73743858del, NC_000015.10:g.73743838_73743858del, NC_000015.10:g.73743840_73743858del, NC_000015.10:g.73743841_73743858del, NC_000015.10:g.73743842_73743858del, NC_000015.10:g.73743843_73743858del, NC_000015.10:g.73743844_73743858del, NC_000015.10:g.73743845_73743858del, NC_000015.10:g.73743846_73743858del, NC_000015.10:g.73743847_73743858del, NC_000015.10:g.73743848_73743858del, NC_000015.10:g.73743849_73743858del, NC_000015.10:g.73743850_73743858del, NC_000015.10:g.73743851_73743858del, NC_000015.10:g.73743852_73743858del, NC_000015.10:g.73743853_73743858del, NC_000015.10:g.73743854_73743858del, NC_000015.10:g.73743855_73743858del, NC_000015.10:g.73743856_73743858del, NC_000015.10:g.73743857_73743858del, NC_000015.10:g.73743858del, NC_000015.10:g.73743858dup, NC_000015.10:g.73743857_73743858dup, NC_000015.10:g.73743856_73743858dup, NC_000015.10:g.73743855_73743858dup, NC_000015.10:g.73743854_73743858dup, NC_000015.10:g.73743853_73743858dup, NC_000015.10:g.73743852_73743858dup, NC_000015.10:g.73743851_73743858dup, NC_000015.10:g.73743850_73743858dup, NC_000015.10:g.73743849_73743858dup, NC_000015.10:g.73743848_73743858dup, NC_000015.10:g.73743847_73743858dup, NC_000015.10:g.73743845_73743858dup, NC_000015.10:g.73743844_73743858dup, NC_000015.10:g.73743834_73743858dup, NC_000015.10:g.73743833_73743858dup, NC_000015.10:g.73743832_73743858dup, NC_000015.10:g.73743831_73743858dup, NC_000015.10:g.73743830_73743858dup, NC_000015.10:g.73743829_73743858dup, NC_000015.10:g.73743858_73743859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.73743858_73743859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.73743858_73743859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.73743858_73743859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.73743858_73743859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.73743858_73743859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.73743858_73743859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.73743858_73743859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.73743858_73743859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.73743858_73743859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.73743858_73743859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.74036172_74036199del, NC_000015.9:g.74036179_74036199del, NC_000015.9:g.74036181_74036199del, NC_000015.9:g.74036182_74036199del, NC_000015.9:g.74036183_74036199del, NC_000015.9:g.74036184_74036199del, NC_000015.9:g.74036185_74036199del, NC_000015.9:g.74036186_74036199del, NC_000015.9:g.74036187_74036199del, NC_000015.9:g.74036188_74036199del, NC_000015.9:g.74036189_74036199del, NC_000015.9:g.74036190_74036199del, NC_000015.9:g.74036191_74036199del, NC_000015.9:g.74036192_74036199del, NC_000015.9:g.74036193_74036199del, NC_000015.9:g.74036194_74036199del, NC_000015.9:g.74036195_74036199del, NC_000015.9:g.74036196_74036199del, NC_000015.9:g.74036197_74036199del, NC_000015.9:g.74036198_74036199del, NC_000015.9:g.74036199del, NC_000015.9:g.74036199dup, NC_000015.9:g.74036198_74036199dup, NC_000015.9:g.74036197_74036199dup, NC_000015.9:g.74036196_74036199dup, NC_000015.9:g.74036195_74036199dup, NC_000015.9:g.74036194_74036199dup, NC_000015.9:g.74036193_74036199dup, NC_000015.9:g.74036192_74036199dup, NC_000015.9:g.74036191_74036199dup, NC_000015.9:g.74036190_74036199dup, NC_000015.9:g.74036189_74036199dup, NC_000015.9:g.74036188_74036199dup, NC_000015.9:g.74036186_74036199dup, NC_000015.9:g.74036185_74036199dup, NC_000015.9:g.74036175_74036199dup, NC_000015.9:g.74036174_74036199dup, NC_000015.9:g.74036173_74036199dup, NC_000015.9:g.74036172_74036199dup, NC_000015.9:g.74036171_74036199dup, NC_000015.9:g.74036170_74036199dup, NC_000015.9:g.74036199_74036200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.74036199_74036200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.74036199_74036200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.74036199_74036200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.74036199_74036200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.74036199_74036200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.74036199_74036200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.74036199_74036200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.74036199_74036200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.74036199_74036200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.74036199_74036200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

        4.

        rs1491285511 has merged into rs71650721 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
          Chromosome:
          15:73739853 (GRCh38)
          15:74032194 (GRCh37)
          Canonical SPDI:
          NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:73739838:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
          Gene:
          INSYN1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ATATATATATATAT=0./0 (ALFA)
          HGVS:
          NC_000015.10:g.73739839AT[7], NC_000015.10:g.73739839AT[8], NC_000015.10:g.73739839AT[9], NC_000015.10:g.73739839AT[10], NC_000015.10:g.73739839AT[11], NC_000015.10:g.73739839AT[12], NC_000015.10:g.73739839AT[13], NC_000015.10:g.73739839AT[14], NC_000015.10:g.73739839AT[16], NC_000015.10:g.73739839AT[17], NC_000015.10:g.73739839AT[18], NC_000015.10:g.73739839AT[19], NC_000015.10:g.73739839AT[20], NC_000015.10:g.73739839AT[21], NC_000015.10:g.73739839AT[22], NC_000015.10:g.73739839AT[23], NC_000015.10:g.73739839AT[24], NC_000015.10:g.73739839AT[25], NC_000015.10:g.73739839AT[28], NC_000015.9:g.74032180AT[7], NC_000015.9:g.74032180AT[8], NC_000015.9:g.74032180AT[9], NC_000015.9:g.74032180AT[10], NC_000015.9:g.74032180AT[11], NC_000015.9:g.74032180AT[12], NC_000015.9:g.74032180AT[13], NC_000015.9:g.74032180AT[14], NC_000015.9:g.74032180AT[16], NC_000015.9:g.74032180AT[17], NC_000015.9:g.74032180AT[18], NC_000015.9:g.74032180AT[19], NC_000015.9:g.74032180AT[20], NC_000015.9:g.74032180AT[21], NC_000015.9:g.74032180AT[22], NC_000015.9:g.74032180AT[23], NC_000015.9:g.74032180AT[24], NC_000015.9:g.74032180AT[25], NC_000015.9:g.74032180AT[28], NM_001039614.3:c.*49AT[7], NM_001039614.3:c.*49AT[8], NM_001039614.3:c.*49AT[9], NM_001039614.3:c.*49AT[10], NM_001039614.3:c.*49AT[11], NM_001039614.3:c.*49AT[12], NM_001039614.3:c.*49AT[13], NM_001039614.3:c.*49AT[14], NM_001039614.3:c.*49AT[16], NM_001039614.3:c.*49AT[17], NM_001039614.3:c.*49AT[18], NM_001039614.3:c.*49AT[19], NM_001039614.3:c.*49AT[20], NM_001039614.3:c.*49AT[21], NM_001039614.3:c.*49AT[22], NM_001039614.3:c.*49AT[23], NM_001039614.3:c.*49AT[24], NM_001039614.3:c.*49AT[25], NM_001039614.3:c.*49AT[28], NM_001039614.2:c.*49AT[7], NM_001039614.2:c.*49AT[8], NM_001039614.2:c.*49AT[9], NM_001039614.2:c.*49AT[10], NM_001039614.2:c.*49AT[11], NM_001039614.2:c.*49AT[12], NM_001039614.2:c.*49AT[13], NM_001039614.2:c.*49AT[14], NM_001039614.2:c.*49AT[16], NM_001039614.2:c.*49AT[17], NM_001039614.2:c.*49AT[18], NM_001039614.2:c.*49AT[19], NM_001039614.2:c.*49AT[20], NM_001039614.2:c.*49AT[21], NM_001039614.2:c.*49AT[22], NM_001039614.2:c.*49AT[23], NM_001039614.2:c.*49AT[24], NM_001039614.2:c.*49AT[25], NM_001039614.2:c.*49AT[28], NM_001039614.1:c.*49AT[7], NM_001039614.1:c.*49AT[8], NM_001039614.1:c.*49AT[9], NM_001039614.1:c.*49AT[10], NM_001039614.1:c.*49AT[11], NM_001039614.1:c.*49AT[12], NM_001039614.1:c.*49AT[13], NM_001039614.1:c.*49AT[14], NM_001039614.1:c.*49AT[16], NM_001039614.1:c.*49AT[17], NM_001039614.1:c.*49AT[18], NM_001039614.1:c.*49AT[19], NM_001039614.1:c.*49AT[20], NM_001039614.1:c.*49AT[21], NM_001039614.1:c.*49AT[22], NM_001039614.1:c.*49AT[23], NM_001039614.1:c.*49AT[24], NM_001039614.1:c.*49AT[25], NM_001039614.1:c.*49AT[28], NM_001303254.2:c.*49AT[7], NM_001303254.2:c.*49AT[8], NM_001303254.2:c.*49AT[9], NM_001303254.2:c.*49AT[10], NM_001303254.2:c.*49AT[11], NM_001303254.2:c.*49AT[12], NM_001303254.2:c.*49AT[13], NM_001303254.2:c.*49AT[14], NM_001303254.2:c.*49AT[16], NM_001303254.2:c.*49AT[17], NM_001303254.2:c.*49AT[18], NM_001303254.2:c.*49AT[19], NM_001303254.2:c.*49AT[20], NM_001303254.2:c.*49AT[21], NM_001303254.2:c.*49AT[22], NM_001303254.2:c.*49AT[23], NM_001303254.2:c.*49AT[24], NM_001303254.2:c.*49AT[25], NM_001303254.2:c.*49AT[28], NM_001303254.1:c.*49AT[7], NM_001303254.1:c.*49AT[8], NM_001303254.1:c.*49AT[9], NM_001303254.1:c.*49AT[10], NM_001303254.1:c.*49AT[11], NM_001303254.1:c.*49AT[12], NM_001303254.1:c.*49AT[13], NM_001303254.1:c.*49AT[14], NM_001303254.1:c.*49AT[16], NM_001303254.1:c.*49AT[17], NM_001303254.1:c.*49AT[18], NM_001303254.1:c.*49AT[19], NM_001303254.1:c.*49AT[20], NM_001303254.1:c.*49AT[21], NM_001303254.1:c.*49AT[22], NM_001303254.1:c.*49AT[23], NM_001303254.1:c.*49AT[24], NM_001303254.1:c.*49AT[25], NM_001303254.1:c.*49AT[28], NM_001384351.1:c.*49AT[7], NM_001384351.1:c.*49AT[8], NM_001384351.1:c.*49AT[9], NM_001384351.1:c.*49AT[10], NM_001384351.1:c.*49AT[11], NM_001384351.1:c.*49AT[12], NM_001384351.1:c.*49AT[13], NM_001384351.1:c.*49AT[14], NM_001384351.1:c.*49AT[16], NM_001384351.1:c.*49AT[17], NM_001384351.1:c.*49AT[18], NM_001384351.1:c.*49AT[19], NM_001384351.1:c.*49AT[20], NM_001384351.1:c.*49AT[21], NM_001384351.1:c.*49AT[22], NM_001384351.1:c.*49AT[23], NM_001384351.1:c.*49AT[24], NM_001384351.1:c.*49AT[25], NM_001384351.1:c.*49AT[28], NM_001384352.1:c.*49AT[7], NM_001384352.1:c.*49AT[8], NM_001384352.1:c.*49AT[9], NM_001384352.1:c.*49AT[10], NM_001384352.1:c.*49AT[11], NM_001384352.1:c.*49AT[12], NM_001384352.1:c.*49AT[13], NM_001384352.1:c.*49AT[14], NM_001384352.1:c.*49AT[16], NM_001384352.1:c.*49AT[17], NM_001384352.1:c.*49AT[18], NM_001384352.1:c.*49AT[19], NM_001384352.1:c.*49AT[20], NM_001384352.1:c.*49AT[21], NM_001384352.1:c.*49AT[22], NM_001384352.1:c.*49AT[23], NM_001384352.1:c.*49AT[24], NM_001384352.1:c.*49AT[25], NM_001384352.1:c.*49AT[28], NM_001384353.1:c.*49AT[7], NM_001384353.1:c.*49AT[8], NM_001384353.1:c.*49AT[9], NM_001384353.1:c.*49AT[10], NM_001384353.1:c.*49AT[11], NM_001384353.1:c.*49AT[12], NM_001384353.1:c.*49AT[13], NM_001384353.1:c.*49AT[14], NM_001384353.1:c.*49AT[16], NM_001384353.1:c.*49AT[17], NM_001384353.1:c.*49AT[18], NM_001384353.1:c.*49AT[19], NM_001384353.1:c.*49AT[20], NM_001384353.1:c.*49AT[21], NM_001384353.1:c.*49AT[22], NM_001384353.1:c.*49AT[23], NM_001384353.1:c.*49AT[24], NM_001384353.1:c.*49AT[25], NM_001384353.1:c.*49AT[28], XM_047432489.1:c.*49AT[7], XM_047432489.1:c.*49AT[8], XM_047432489.1:c.*49AT[9], XM_047432489.1:c.*49AT[10], XM_047432489.1:c.*49AT[11], XM_047432489.1:c.*49AT[12], XM_047432489.1:c.*49AT[13], XM_047432489.1:c.*49AT[14], XM_047432489.1:c.*49AT[16], XM_047432489.1:c.*49AT[17], XM_047432489.1:c.*49AT[18], XM_047432489.1:c.*49AT[19], XM_047432489.1:c.*49AT[20], XM_047432489.1:c.*49AT[21], XM_047432489.1:c.*49AT[22], XM_047432489.1:c.*49AT[23], XM_047432489.1:c.*49AT[24], XM_047432489.1:c.*49AT[25], XM_047432489.1:c.*49AT[28]

          5.

          rs1490999581 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            15:73743700 (GRCh38)
            15:74036041 (GRCh37)
            Canonical SPDI:
            NC_000015.10:73743699:C:T
            Gene:
            INSYN1 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1490746845 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              15:73751310 (GRCh38)
              15:74043651 (GRCh37)
              Canonical SPDI:
              NC_000015.10:73751309:T:G
              Gene:
              INSYN1 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1490721405 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                15:73750333 (GRCh38)
                15:74042674 (GRCh37)
                Canonical SPDI:
                NC_000015.10:73750332:G:C
                Gene:
                INSYN1 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1490479092 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  15:73741314 (GRCh38)
                  15:74033655 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:73741313:A:G
                  Gene:
                  INSYN1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1490439056 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:73743263 (GRCh38)
                    15:74035604 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:73743262:A:G
                    Gene:
                    INSYN1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000011/3 (TOPMED)
                    HGVS:

                    10.

                    rs1490256130 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      15:73751863 (GRCh38)
                      15:74044204 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:73751862:C:G
                      Gene:
                      INSYN1 (Varview)
                      Functional Consequence:
                      intron_variant,splice_acceptor_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1490230192 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:73750840 (GRCh38)
                        15:74043181 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:73750839:G:A
                        Gene:
                        INSYN1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1490207856 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          15:73736433 (GRCh38)
                          15:74028774 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:73736432:T:C
                          Gene:
                          INSYN1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1490192167 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GAG>- [Show Flanks]
                            Chromosome:
                            15:73735342 (GRCh38)
                            15:74027683 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:73735338:GAGGAG:GAG
                            Gene:
                            INSYN1 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GAGGAG=0./0 (ALFA)
                            -=0./0 (GnomAD)
                            -=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1490016085 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:73744292 (GRCh38)
                              15:74036633 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:73744291:C:T
                              Gene:
                              INSYN1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1489945027 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                15:73743680 (GRCh38)
                                15:74036021 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:73743679:A:G
                                Gene:
                                INSYN1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1489785934 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  15:73752716 (GRCh38)
                                  15:74045057 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:73752715:G:A,NC_000015.10:73752715:G:C
                                  Gene:
                                  INSYN1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1489466137 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:73744457 (GRCh38)
                                    15:74036798 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:73744456:C:T
                                    Gene:
                                    INSYN1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1489411257 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      15:73744381 (GRCh38)
                                      15:74036722 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:73744380:C:T
                                      Gene:
                                      INSYN1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000142/2 (TOMMO)
                                      T=0.000684/2 (KOREAN)
                                      HGVS:

                                      19.

                                      rs1489320004 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        15:73742480 (GRCh38)
                                        15:74034821 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:73742479:G:A
                                        Gene:
                                        INSYN1 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        A=0.000283/5 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1488688187 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->G [Show Flanks]
                                          Chromosome:
                                          15:73743853 (GRCh38)
                                          15:74036195 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:73743853::G
                                          Gene:
                                          INSYN1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.00027/5 (TOMMO)
                                          HGVS:

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