| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | CausalMutation | CLINVAR | Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approach. | 26342331 | 2015 |
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|
A | 0.710 | CausalMutation | CLINVAR | Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia. | 24014831 | 2013 |
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|
0.710 | GeneticVariation | BEFREE | Three founder-related low-density lipoprotein receptor (LDLR) gene mutations, D154N, D206E and V408M, cause familial hypercholesterolemia (FH) in approximately 90% of South African Afrikaners. | 9727745 | 1998 |
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|
T | 0.710 | GeneticVariation | CLINVAR | Molecular genetics of familial hypercholesterolaemia in Norway. | 9104431 | 1997 |
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|
A | 0.710 | CausalMutation | CLINVAR | FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolemia. | 7773731 | 1995 |
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|
A | 0.710 | GeneticVariation | CLINVAR | The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia. | 2799589 | 1989 |
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|
A | 0.710 | CausalMutation | CLINVAR | The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia. | 2799589 | 1989 |
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|
A | 0.710 | CausalMutation | CLINVAR | Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus. | 2565980 | 1989 |
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|
A | 0.710 | CausalMutation | CLINVAR | Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia. | 3430554 | 1987 |