Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254827
rs879254827
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect. 18096825 2008
dbSNP: rs879254827
rs879254827
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 16250003 2005
dbSNP: rs879254827
rs879254827
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. 15241806 2004