Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750649426
rs750649426
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Update of the Portuguese Familial Hypercholesterolaemia Study. 20828696 2010
dbSNP: rs750649426
rs750649426
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
dbSNP: rs750649426
rs750649426
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436 2004
dbSNP: rs750649426
rs750649426
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations. 11933210 2002
dbSNP: rs750649426
rs750649426
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
dbSNP: rs750649426
rs750649426
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote. 8831933 1996