Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989921
rs875989921
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
dbSNP: rs875989921
rs875989921
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country. 10657581 2000
dbSNP: rs875989921
rs875989921
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
A 0.700 CausalMutation CLINVAR Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype. 7903864 1994
dbSNP: rs875989921
rs875989921
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
T 0.700 CausalMutation CLINVAR