Gene: LDLR ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882078
rs730882078
LDLR
T 0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs730882078
rs730882078
LDLR
T 0.700 CausalMutation CLINVAR Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes. 21642693

2011
dbSNP: rs1555800701
rs1555800701
LDLR
C 0.700 GeneticVariation CLINVAR