Gene: LDLR ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs989307060
rs989307060
LDLR
G 0.700 GeneticVariation CLINVAR

dbSNP: rs944580031
rs944580031
LDLR
A 0.700 GeneticVariation CLINVAR

dbSNP: rs934496989
rs934496989
LDLR
T 0.700 GeneticVariation CLINVAR

dbSNP: rs912448894
rs912448894
LDLR
T 0.700 CausalMutation CLINVAR

dbSNP: rs886039831
rs886039831
LDLR
G 0.700 CausalMutation CLINVAR

dbSNP: rs886039831
rs886039831
LDLR
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886039830
rs886039830
LDLR
A 0.700 CausalMutation CLINVAR

dbSNP: rs879255229
rs879255229
LDLR
C 0.700 CausalMutation CLINVAR LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. 9654205

1998
dbSNP: rs879255227
rs879255227
LDLR
G 0.700 GeneticVariation CLINVAR Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia. 9157944

1997
dbSNP: rs879255226
rs879255226
LDLR
A 0.700 CausalMutation CLINVAR

dbSNP: rs879255224
rs879255224
LDLR
A 0.700 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations. 19411563

2009
dbSNP: rs879255223
rs879255223
LDLR
T 0.700 GeneticVariation CLINVAR Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations. 11933210

2002
dbSNP: rs879255223
rs879255223
LDLR
T 0.700 CausalMutation CLINVAR

dbSNP: rs879255222
rs879255222
LDLR
AC 0.700 CausalMutation CLINVAR

dbSNP: rs879255222
rs879255222
LDLR
AC 0.700 GeneticVariation CLINVAR Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. 19318025

2009
dbSNP: rs879255221
rs879255221
LDLR
T 0.700 CausalMutation CLINVAR Molecular spectrum of autosomal dominant hypercholesterolemia in France. 20809525

2010
dbSNP: rs879255220
rs879255220
LDLR
A 0.700 CausalMutation CLINVAR

dbSNP: rs879255219
rs879255219
LDLR
C 0.700 CausalMutation CLINVAR Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis. 26343872

2015
dbSNP: rs879255218
rs879255218
LDLR
C 0.700 GeneticVariation CLINVAR Molecular spectrum of autosomal dominant hypercholesterolemia in France. 20809525

2010
dbSNP: rs879255217
rs879255217
LDLR
A 0.700 CausalMutation CLINVAR

dbSNP: rs879255217
rs879255217
LDLR
T 0.700 CausalMutation CLINVAR

dbSNP: rs879255217
rs879255217
LDLR
A 0.700 GeneticVariation CLINVAR Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic. 23669246

2013
dbSNP: rs879255215
rs879255215
LDLR
G 0.700 GeneticVariation CLINVAR Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective. 15556094

2004
dbSNP: rs879255213
rs879255213
LDLR
T 0.700 CausalMutation CLINVAR Moderate phenotypic expression of familial hypercholesterolemia in Tunisia. 20144596

2010
dbSNP: rs879255213
rs879255213
LDLR
T 0.700 CausalMutation CLINVAR Array-based resequencing for mutations causing familial hypercholesterolemia. 21376320

2011