Gene: LDLR ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1013147010
rs1013147010
LDLR
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516127
rs1057516127
LDLR
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516132
rs1057516132
LDLR
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516134
rs1057516134
LDLR
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516135
rs1057516135
LDLR
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057519661
rs1057519661
LDLR
A 0.710 CausalMutation CLINVAR

dbSNP: rs1057519667
rs1057519667
LDLR ; MIR6886
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519669
rs1057519669
LDLR ; MIR6886
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519670
rs1057519670
LDLR ; MIR6886
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519673
rs1057519673
LDLR ; MIR6886
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519677
rs1057519677
LDLR
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060500986
rs1060500986
LDLR ; MIR6886
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500987
rs1060500987
LDLR ; MIR6886
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060500988
rs1060500988
LDLR
G 0.700 CausalMutation CLINVAR

dbSNP: rs1064792905
rs1064792905
LDLR
A 0.700 CausalMutation CLINVAR

dbSNP: rs112029328
rs112029328
LDLR
A 0.700 CausalMutation CLINVAR Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3. 19361455

2009
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 CausalMutation CLINVAR Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. 10532689

1999
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 CausalMutation CLINVAR Molecular characterization of familial hypercholesterolemia in German and Greek patients. 14974088

2004
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 CausalMutation CLINVAR Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. 22390909

2012
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 GeneticVariation CLINVAR Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. 7616128

1995
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 GeneticVariation CLINVAR Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. 19318025

2009
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 GeneticVariation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246

2008
dbSNP: rs112029328
rs112029328
LDLR
C 0.700 GeneticVariation CLINVAR Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene. 10790219

2000
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 CausalMutation CLINVAR Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy. 20045108

2010
dbSNP: rs112029328
rs112029328
LDLR
T 0.700 GeneticVariation CLINVAR Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate. 16159606

2005