rs72658864, LDLR

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
0.700 CausalMutation CLINVAR
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
0.700 CausalMutation CLINVAR
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.010 GeneticVariation BEFREE HCV pseudoparticle assays in Huh7.5 cells showed that HVR1 deletion decreased entry by 20- to 100-fold for H77, J6, and S52; N476D/S733F restored entry for H77(ΔHVR1), while A369V further impaired S52(ΔHVR1) entry. 24257605 2014