| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. | 26036859 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | 25637381 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. | 22390909 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses. | 19208450 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis. | 11668640 | 2001 |
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|
A | 0.700 | CausalMutation | CLINVAR | Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. | 10735632 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR | Intronic mutations at splice junctions in the low-density lipoprotein receptor gene. | 10441197 | 1999 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutant transcripts of the LDL receptor gene: mRNA structure and quantity. | 10090473 | 1999 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. | 7616128 | 1995 |