Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750518671
rs750518671
LDLR
0.710 GeneticVariation BEFREE Mutations that were previously reported to be disease causing were identified in eight of nine individuals with FH and both cell lines (V502M, C146X, E207X, C660X, C646Y, and delG197), but none were found in controls. 12406975

2002
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. 7649549

1995
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436

2004
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632

2000
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849

2009
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849

2009
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. 22698793

2012
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland. 22859806

2012
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 12436241

2002
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico. 16314194

2006
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. 9763532

1998
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306

2010
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272

2001
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246

2008
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia. 15701167

2005
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico. 16314194

2006
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia. 20538126

2010
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 12436241

2002
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306

2010
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. 7649549

1995
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246

2008
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations. 19411563

2009
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. 9763532

1998