| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.720 | GeneticVariation | CLINVAR | Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. | 23375686 | 2013 |
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|
0.720 | GeneticVariation | BEFREE | The analysis of three heterozygous variants with a single point mutation within the low-density lipoprotein binding domain allowed us to classify the c.806G>A variant as nonpathogenic, and c.862G>A and c.895G>A variants as causative of FH. | 21990180 | 2012 |
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|
A | 0.720 | GeneticVariation | CLINVAR | Functional characterization of splicing and ligand-binding domain variants in the LDL receptor. | 21990180 | 2012 |
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|
T | 0.720 | CausalMutation | CLINVAR | An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. | 21310417 | 2011 |
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|
A | 0.720 | GeneticVariation | CLINVAR | Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. | 19318025 | 2009 |
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|
A | 0.720 | GeneticVariation | CLINVAR | Familial hypercholesterolaemia in Portugal. | 17765246 | 2008 |
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|
A | 0.720 | GeneticVariation | CLINVAR | Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. | 11857755 | 2002 |
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|
A | 0.720 | GeneticVariation | CLINVAR | The molecular basis of familial hypercholesterolemia in The Netherlands. | 11810272 | 2001 |
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|
A | 0.720 | GeneticVariation | CLINVAR | Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online. | 10090484 | 1999 |
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|
T | 0.720 | CausalMutation | CLINVAR | Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia. | 9974426 | 1999 |
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|
0.720 | GeneticVariation | BEFREE | We identified six persons in the index families with the Glu119-Lys mutation cosegregating with the clinical syndrome of FH in these families. | 7981713 | 1994 |
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|
A | 0.720 | CausalMutation | CLINVAR |