Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254805
rs879254805
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
T 0.700 CausalMutation CLINVAR Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. 16389549 2006
dbSNP: rs879254805
rs879254805
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
T 0.700 CausalMutation CLINVAR Molecular characterization of familial hypercholesterolemia in German and Greek patients. 14974088 2004
dbSNP: rs879254805
rs879254805
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
T 0.700 CausalMutation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436 2004
dbSNP: rs879254805
rs879254805
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
T 0.700 CausalMutation CLINVAR A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia. 9225977 1997