Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922567
rs193922567
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous
A 0.700 CausalMutation CLINVAR The UMD-LDLR database: additions to the software and 490 new entries to the database. 12124988 2002
dbSNP: rs193922567
rs193922567
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous
A 0.700 CausalMutation CLINVAR Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia. 11462246 2001
dbSNP: rs193922567
rs193922567
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous
A 0.700 CausalMutation CLINVAR Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. 11196104 2000