Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs867272973
rs867272973
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555808118
rs1555808118
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs121908030
rs121908030
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia. 4061492

1985
dbSNP: rs121908031
rs121908031
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. 3025214

1987
dbSNP: rs121908028
rs121908028
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		G 0.700 CausalMutation CLINVAR Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity. 3202825

1988
dbSNP: rs28942084
rs28942084
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		T 0.710 CausalMutation CLINVAR Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. 2726768

1989
dbSNP: rs28942084
rs28942084
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		T 0.710 CausalMutation CLINVAR Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject. 2920733

1989
dbSNP: rs121908028
rs121908028
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		G 0.700 CausalMutation CLINVAR Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. 2569482

1989
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. 2760205

1989
dbSNP: rs121908025
rs121908025
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		G 0.710 CausalMutation CLINVAR Common low-density lipoprotein receptor mutations in the French Canadian population. 2318961

1990
dbSNP: rs28942080
rs28942080
LDLR ; MIR6886
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. 2088165

1990
dbSNP: rs121908030
rs121908030
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. 2088165

1990
dbSNP: rs121908029
rs121908029
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Common low-density lipoprotein receptor mutations in the French Canadian population. 2318961

1990
dbSNP: rs121908028
rs121908028
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		G 0.700 CausalMutation CLINVAR An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics. 2352257

1990
dbSNP: rs28942084
rs28942084
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		T 0.710 CausalMutation CLINVAR Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene. 1830890

1991
dbSNP: rs875989929
rs875989929
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.710 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992
dbSNP: rs28942084
rs28942084
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		T 0.710 CausalMutation CLINVAR Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. 1464748

1992
dbSNP: rs879254867
rs879254867
LDLR ; MIR6886
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		C 0.700 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992
dbSNP: rs875989916
rs875989916
LDLR ; MIR6886
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		AGGGT 0.700 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992
dbSNP: rs875989909
rs875989909
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		G 0.700 GeneticVariation CLINVAR Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method. 1301940

1992
dbSNP: rs875989909
rs875989909
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		G 0.700 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992
dbSNP: rs771019366
rs771019366
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		G 0.700 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992
dbSNP: rs768563000
rs768563000
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992
dbSNP: rs730882096
rs730882096
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992
dbSNP: rs376459828
rs376459828
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992