| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina. | 28502510 | 2018 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries. | 28391882 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy. | 27247956 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. | 25461735 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. | 23680767 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. | 22698793 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation. | 21145767 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. | 19319977 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. | 3025214 | 1987 |