Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074125
rs120074125
SMPD1
G 0.700 CausalMutation CLINVAR Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. 17360762

2007
dbSNP: rs120074125
rs120074125
SMPD1
G 0.700 CausalMutation CLINVAR Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. 7762557

1995