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rs587781240

From SNPedia

ClinVar
Risk Rs587781240(CTCAAGCAAAGAAAAACTTAAA;CTCAAGCAAAGAAAAACTTAAA) rs587781240(CTTAAA;CTTAAA)
Alt Rs587781240(CTCAAGCAAAGAAAAACTTAAA;CTCAAGCAAAGAAAAACTTAAA) rs587781240(CTTAAA;CTTAAA)
Reference Rs587781240(A;A)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584336_25584340dupTTAAG; NC_000015.9:g.25584336_25584356dup21
CLNSRC
CLNACC RCV000193223.1, RCV000144316.1,