RS28362286 PCSK9
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What This Variant Does
"rs28362286, also known as C679X, is a SNP in the PCSK9 gene. It has been reported in several studies...
Associated Conditions
Low density lipoprotein cholesterol level quantitative trait locus 1
Hypocholesterolemia
Familial hypercholesterolemia
Hypercholesterolemia
autosomal dominant
3
Cardiovascular phenotype
PCSK9-related disorder
Low density lipoprotein cholesterol level quantitative trait locus 1
Hypocholesterolemia
Familial hypercholesterolemia
Hypercholesterolemia
autosomal dominant
3
Cardiovascular phenotype
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Low density lipoprotein cholesterol levels | A | OR: 1.08 | 1E-335 | PubMed |
| low density lipoprotein cholesterol (LDLC, mean, inv-norm transformed) | C | OR: 1.03 | 1E-323 | PubMed |
| low density lipoprotein cholesterol (LDLC, mean, inv-norm transformed) | C | OR: 1.04 | 1E-323 | PubMed |
| low density lipoprotein cholesterol (LDLC, maximum, inv-norm transformed) | C | OR: 1.04 | 1E-323 | PubMed |
| low density lipoprotein cholesterol (LDLC, maximum, inv-norm transformed) | C | OR: 1.04 | 4E-319 | PubMed |
| total cholesterol (mean, inv-norm transformed) | C | OR: 0.9 | 1E-287 | PubMed |
| low density lipoprotein cholesterol (LDLC, minimum, inv-norm transformed) | C | OR: 0.88 | 4E-283 | PubMed |
| total cholesterol (maximum, inv-norm transformed) | C | OR: 0.89 | 5E-279 | PubMed |
| Total cholesterol levels | A | OR: 0.95 | 1E-274 | PubMed |
| low density lipoprotein cholesterol (LDLC, minimum, inv-norm transformed) | C | OR: 0.88 | 1E-253 | PubMed |
| total cholesterol (mean, inv-norm transformed) | C | OR: 0.89 | 1E-241 | PubMed |
| total cholesterol (maximum, inv-norm transformed) | C | OR: 0.88 | 1E-236 | PubMed |
| total cholesterol (minimum, inv-norm transformed) | C | OR: 0.75 | 5E-205 | PubMed |
| total cholesterol (minimum, inv-norm transformed) | C | OR: 0.75 | 4E-181 | PubMed |
| Low density lipoprotein cholesterol levels | A | OR: 0.88 | 4E-113 | PubMed |
| Hyperlipidemia (PheCode 272.1) | C | OR: 1.14 | 5E-102 | PubMed |
| Disorders of lipid metabolism (PheCode 272) | C | OR: 1.14 | 8E-102 | PubMed |
| Total cholesterol levels | A | OR: 0.79 | 3E-88 | PubMed |
| Non-HDL cholesterol levels | A | OR: 1 | 3E-84 | PubMed |
| Low density lipoprotein cholesterol levels | C | OR: 0.94 | 4E-73 | PubMed |
Other Variants in PCSK9