Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908386
rs121908386
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0079504
Disease:
Hermanski-Pudlak Syndrome
A 0.700 CausalMutation CLINVAR