| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. | 26036859 | 2016 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. | 26892515 | 2016 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. | 25487149 | 2015 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | 25637381 | 2015 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. | 23375686 | 2013 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. | 22698793 | 2012 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. | 21310417 | 2011 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. | 20145306 | 2010 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. | 20663204 | 2010 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. | 16542394 | 2006 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | The molecular basis of familial hypercholesterolemia in The Netherlands. | 11810272 | 2001 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country. | 10657581 | 2000 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. | 11196104 | 2000 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. | 1301956 | 1992 |