| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.880 | GeneticVariation | CLINVAR | ||||||
|
T | 0.880 | CausalMutation | CLINVAR | ||||||
|
G | 0.860 | GeneticVariation | CLINVAR | ||||||
|
G | 0.860 | CausalMutation | CLINVAR | ||||||
|
A | 0.840 | CausalMutation | CLINVAR | ||||||
|
T | 0.840 | GeneticVariation | CLINVAR | ||||||
|
A | 0.840 | GeneticVariation | CLINVAR | ||||||
|
A | 0.830 | CausalMutation | CLINVAR | ||||||
|
C | 0.830 | GeneticVariation | CLINVAR | ||||||
|
A | 0.820 | GeneticVariation | CLINVAR | ||||||
|
T | 0.820 | CausalMutation | CLINVAR | ||||||
|
G | 0.820 | CausalMutation | CLINVAR | ||||||
|
G | 0.820 | GeneticVariation | CLINVAR | ||||||
|
G | 0.820 | GeneticVariation | CLINVAR | ||||||
|
C | 0.820 | GeneticVariation | CLINVAR | ||||||
|
T | 0.810 | CausalMutation | CLINVAR | Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. | 23375686 | 2013 |
|||
|
T | 0.810 | CausalMutation | CLINVAR | The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. | 22698793 | 2012 |
|||
|
T | 0.810 | CausalMutation | CLINVAR | Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia. | 20538126 | 2010 |
|||
|
T | 0.810 | CausalMutation | CLINVAR | The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. | 19446849 | 2009 |
|||
|
T | 0.810 | CausalMutation | CLINVAR | Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia. | 19538517 | 2009 |
|||
|
T | 0.810 | CausalMutation | CLINVAR | Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia. | 17539906 | 2007 |
|||
|
T | 0.810 | CausalMutation | CLINVAR | Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. | 15241806 | 2004 |
|||
|
T | 0.810 | CausalMutation | CLINVAR | Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. | 9259195 | 1997 |
|||
|
G | 0.810 | GeneticVariation | CLINVAR | ||||||
|
A | 0.810 | CausalMutation | CLINVAR |