Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254704
rs879254704
LDLR
C 0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. 22698793

2012
dbSNP: rs879254704
rs879254704
LDLR
C 0.700 CausalMutation CLINVAR Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. 11754108

2002