MIR6886, microRNA 6886, 102465534

N. diseases: 6; N. variants: 286
Disease: Hypercholesterolemia, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765696008
rs765696008
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing. 26077743 2015
dbSNP: rs765696008
rs765696008
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing. 24075752 2013
dbSNP: rs765696008
rs765696008
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations. 21865347 2011
dbSNP: rs765696008
rs765696008
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306 2010
dbSNP: rs765696008
rs765696008
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Evaluation of high-resolution melting analysis for screening the LDL receptor gene. 19118540 2009
dbSNP: rs765696008
rs765696008
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia. 17426749 2006
dbSNP: rs765696008
rs765696008
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia. 16205024 2005
dbSNP: rs765696008
rs765696008
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 12436241 2002
dbSNP: rs765696008
rs765696008
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent. 11668627 2001