RS2228671 LDLR
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What This Variant Does
"The G variant of this SNP in the LDLR gene is reported as meeting at least one of three criteria con...
Associated Conditions
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Cardiovascular phenotype
See cases
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Cardiovascular phenotype
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
GWAS Studies (8)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Cholesterol, total | G | OR: 0.16 | 9E-24 | PubMed |
| LDL cholesterol | G | OR: 0.14 | 4E-14 | PubMed |
| Low density lipoprotein cholesterol levels | — | OR: 4.63 | 2E-13 | PubMed |
| Free cholesterol levels in IDL | T | OR: 0.18 | 6E-13 | PubMed |
| Serum metabolite levels (CMS) | — | β: 0.067 | 1E-11 | PubMed |
| Cholesteryl esters in medium HDL (UKB data field 23569) | T | β: 0.042 | 4E-10 | PubMed |
| Total cholesterol levels | — | OR: 4.31 | 1E-9 | PubMed |
| Serum metabolite levels | — | β: 0.068 | 4E-6 | PubMed |
Other Variants in LDLR