rs879254518, LDLR

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 GeneticVariation BEFREE The variant c.1187-1G > T, which has uncertain significance in FH pathogenesis, was present in all the individuals with the p.D139G mutation. 30270082 2018
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.710 GeneticVariation BEFREE The variant c.1187-1G > T, which has uncertain significance in FH pathogenesis, was present in all the individuals with the p.D139G mutation. 30270082 2018
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 GeneticVariation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 GeneticVariation CLINVAR Molecular spectrum of autosomal dominant hypercholesterolemia in France. 20809525 2010
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 GeneticVariation CLINVAR Molecular spectrum of autosomal dominant hypercholesterolemia in France. 20809525 2010
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 CausalMutation CLINVAR
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 CausalMutation CLINVAR
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.710 GeneticVariation CLINVAR
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
0.700 CausalMutation CLINVAR
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 result
CUI: C1522133
Disease: Hypercholesterolemia result
0.700 CausalMutation CLINVAR