Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254907
rs879254907
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Familial hypercholesterolaemia with tuberous and tendinous xanthomas: case report and mutation analysis. 25807990 2015
dbSNP: rs879254907
rs879254907
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849 2009
dbSNP: rs879254907
rs879254907
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. 19318025 2009
dbSNP: rs879254907
rs879254907
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272 2001