Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746118995
rs746118995
LDLR
T 0.700 GeneticVariation CLINVAR The genetic spectrum of familial hypercholesterolemia in the central south region of China. 28235710

2017
dbSNP: rs746118995
rs746118995
LDLR
T 0.700 GeneticVariation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs746118995
rs746118995
LDLR
T 0.700 GeneticVariation CLINVAR The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. 22698793

2012
dbSNP: rs746118995
rs746118995
LDLR
T 0.700 GeneticVariation CLINVAR Array-based resequencing for mutations causing familial hypercholesterolemia. 21376320

2011
dbSNP: rs746118995
rs746118995
LDLR
T 0.700 GeneticVariation CLINVAR Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia. 19538517

2009
dbSNP: rs746118995
rs746118995
LDLR
T 0.700 GeneticVariation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849

2009
dbSNP: rs746118995
rs746118995
LDLR
T 0.700 GeneticVariation CLINVAR Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. 15241806

2004
dbSNP: rs746118995
rs746118995
LDLR
T 0.700 GeneticVariation CLINVAR Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195

1997