Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750518671
rs750518671
LDLR
A 0.700 CausalMutation CLINVAR Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations. 27816806

2016
dbSNP: rs750518671
rs750518671
LDLR
A 0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs750518671
rs750518671
LDLR
A 0.700 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 0.700 CausalMutation 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 0.700 CausalMutation CLINVAR Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. 9763532

1998
dbSNP: rs750518671
rs750518671
LDLR
A 0.700 CausalMutation CLINVAR Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. 7649549

1995