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rs794727780

From SNPedia

ClinVar
Risk rs794727780(;)
Alt rs794727780(;)
Reference rs794727780(GCC;GCC)
Significance Pathogenic
Disease Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6415770_6415772delGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000179325.2, RCV000192229.1,