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rs864622059

From SNPedia

ClinVar
Risk rs864622059(A;A)
Alt rs864622059(A;A)
Reference rs864622059(;)
Significance Pathogenic
Disease Adams-Oliver syndrome 5
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5
Reversed 1
HGVS NC_000009.11:g.139410453dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000203698.1,