Gene: MIR6886 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859

2016
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 CausalMutation CLINVAR Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality. 21925660

2011
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 CausalMutation CLINVAR Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes. 21475731

2011
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia. 21722902

2011
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. 20506408

2010
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 CausalMutation CLINVAR Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms. 19837725

2010
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms. 19837725

2010
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
C 0.760 GeneticVariation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246

2008
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 CausalMutation CLINVAR Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--. 15256764

2004
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436

2004
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 CausalMutation CLINVAR Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig. 11139254

2001
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 CausalMutation CLINVAR Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent. 11668627

2001
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 CausalMutation CLINVAR Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. 11196104

2000
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
T 0.760 GeneticVariation CLINVAR Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay. 9727746

1998
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. 9763532

1998
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. 7649549

1995
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics. 7718024

1994
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia. 8478013

1993
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 CausalMutation CLINVAR Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. 2569482

1989
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. 2569482

1989
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
C 0.760 CausalMutation CLINVAR

dbSNP: rs879254920
rs879254920
LDLR ; MIR6886
C 0.720 GeneticVariation CLINVAR Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. 20236128

2010
dbSNP: rs879254842
rs879254842
LDLR ; MIR6886
C 0.720 GeneticVariation CLINVAR Mutation analysis of exon 9 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia. 11194027

2000