Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922566
rs193922566
LDLR
A 0.700 CausalMutation CLINVAR Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries. 28391882

2017
dbSNP: rs879254787
rs879254787
LDLR ; MIR6886
C 0.700 CausalMutation CLINVAR Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic. 28379029

2017
dbSNP: rs775092314
rs775092314
LDLR
C 0.700 CausalMutation CLINVAR The genetic spectrum of familial hypercholesterolemia in the central south region of China. 28235710

2017
dbSNP: rs879254457
rs879254457
LDLR
T 0.700 CausalMutation CLINVAR The genetic spectrum of familial hypercholesterolemia in the central south region of China. 28235710

2017
dbSNP: rs121908029
rs121908029
LDLR
C 0.700 CausalMutation CLINVAR Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia. 28159968

2017
dbSNP: rs144614838
rs144614838
LDLR ; MIR6886
A 0.700 GeneticVariation CLINVAR Homozygous familial hypercholesterolemia: Summarized case reports. 28126585

2017
dbSNP: rs137853964
rs137853964
LDLR
0.710 GeneticVariation BEFREE The c.2479G > A p.(V827I) in exon 17 of the LDLR gene was found in 8 patients (33.3% of the mutations) with modestly elevated LDL-C, but also in a compound heterozygous patient with a clinical homozygous FH phenotype, consistent with this being a "mild" FH-causing variant. 28104544

2017
dbSNP: rs28942079
rs28942079
LDLR ; MIR6886
A 0.700 CausalMutation CLINVAR Molecular genetics of familial hypercholesterolemia in Israel-revisited. 28104544

2017
dbSNP: rs121908043
rs121908043
LDLR ; MIR6886
A 0.700 CausalMutation CLINVAR Mutation detection in Chinese patients with familial hypercholesterolemia. 28028493

2016
dbSNP: rs185098634
rs185098634
LDLR
T 0.700 CausalMutation CLINVAR Mutation detection in Chinese patients with familial hypercholesterolemia. 28028493

2016
dbSNP: rs730882109
rs730882109
LDLR
T 0.700 CausalMutation CLINVAR Mutation detection in Chinese patients with familial hypercholesterolemia. 28028493

2016
dbSNP: rs879254839
rs879254839
LDLR ; MIR6886
0.710 GeneticVariation BEFREE Our findings demonstrate that LDLR-R410S represents an LDLR loss-of-function through a novel class 8 FH-causing mechanism, thereby rationalizing the observed phenotype. 27998977

2017
dbSNP: rs1057519691
rs1057519691
PCSK9
G 0.700 GeneticVariation CLINVAR The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA. 27998977

2017
dbSNP: rs193922570
rs193922570
LDLR
C 0.700 CausalMutation CLINVAR Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease. 27919364

2017
dbSNP: rs5742904
rs5742904
APOB
0.800 GeneticVariation BEFREE Population studies suggest that approximately 0.1% of Northern Europeans and US Caucasians carries the R3500Q variant in APOB most commonly associated with FDB; in addition, the APOB R3500 W variant is known to make a significant contribution to familial hypercholesterolemia (FH) among East Asians. 27919345

2017
dbSNP: rs199774121
rs199774121
LDLR
A 0.700 CausalMutation CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900

2016
dbSNP: rs144614838
rs144614838
LDLR ; MIR6886
A 0.700 GeneticVariation CLINVAR The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. 27824480

2017
dbSNP: rs28942079
rs28942079
LDLR ; MIR6886
A 0.700 CausalMutation CLINVAR The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. 27824480

2017
dbSNP: rs771019366
rs771019366
LDLR
G 0.700 CausalMutation CLINVAR The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. 27824480

2017
dbSNP: rs879254470
rs879254470
LDLR
C 0.700 CausalMutation CLINVAR The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. 27824480

2017
dbSNP: rs879255059
rs879255059
LDLR
A 0.700 CausalMutation CLINVAR The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. 27824480

2017
dbSNP: rs376459828
rs376459828
LDLR
A 0.700 CausalMutation CLINVAR Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations. 27816806

2016
dbSNP: rs773618064
rs773618064
LDLR
TG 0.700 CausalMutation CLINVAR Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations. 27816806

2016
dbSNP: rs200727689
rs200727689
LDLR
A 0.710 CausalMutation CLINVAR Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 27784735

2016
dbSNP: rs771917370
rs771917370
LDLR
T 0.710 CausalMutation CLINVAR Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 27784735

2016