Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781585299
rs781585299
LDLRAP1
AC 0.700 CausalMutation CLINVAR Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo. 22157599

2012
dbSNP: rs781585299
rs781585299
LDLRAP1
AC 0.700 CausalMutation CLINVAR A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene. 21872251

2011
dbSNP: rs781585299
rs781585299
LDLRAP1
AC 0.700 CausalMutation CLINVAR Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. 12788851

2003
dbSNP: rs781585299
rs781585299
LDLRAP1
AC 0.700 CausalMutation CLINVAR Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. 12464675

2002