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rs875989834

From SNPedia

ClinVar
Risk rs875989834(-;-)
Alt rs875989834(-;-)
Reference Rs875989834(ACCGTGTGTACCA;ACCGTGTGTACCA)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6415432_6415444delCCGTGTGTACCAA
CLNSRC
CLNACC RCV000211462.1,