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rs780495201

From SNPedia

ClinVar
Risk rs780495201(A;A)
Alt rs780495201(A;A)
Reference rs780495201(;)
Significance Pathogenic
Disease Wolman disease Lysosomal acid lipase deficiency
Variation info
Gene LIPA
CLNDBN Wolman disease Lysosomal acid lipase deficiency
Reversed 0
HGVS NC_000010.10:g.90984930dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000099.2, RCV000000100.2,