Gene: LDLR ×
Source: INFERRED ×
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 Molecular characterization of familial hypercholesterolemia in German and Greek patients. 14974088

2004
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 GeneticVariation CLINVAR Intronic mutations at splice junctions in the low-density lipoprotein receptor gene. 10441197

1999
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 GeneticVariation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306

2010
dbSNP: rs112029328
rs112029328
LDLR
T 0.700 CausalMutation CLINVAR

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
T 0.700 GeneticVariation CLINVAR Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia. 8829662

1996
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
A 0.700 GeneticVariation CLINVAR Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia. 10634824

2000
dbSNP: rs112029328
rs112029328
LDLR
C 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 Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia. 8829662

1996