Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908039
rs121908039
LDLR
A 0.700 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations. 27680772

2016
dbSNP: rs121908039
rs121908039
LDLR
A 0.700 CausalMutation CLINVAR Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. 25461735

2015
dbSNP: rs121908039
rs121908039
LDLR
A 0.700 CausalMutation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246

2008
dbSNP: rs121908039
rs121908039
LDLR
A 0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272

2001
dbSNP: rs121908039
rs121908039
LDLR
A 0.700 CausalMutation CLINVAR Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent. 11668627

2001
dbSNP: rs121908039
rs121908039
LDLR
A 0.700 CausalMutation CLINVAR Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia. 10559517

1999
dbSNP: rs121908039
rs121908039
LDLR
A 0.700 CausalMutation CLINVAR Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. 9678702

1998