LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hypercholesterolemia, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555800648
rs1555800648
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR