Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918104
rs121918104
PSAP
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		G 0.700 CausalMutation CLINVAR Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature. 19955343

2009