RS11887534 ABCG5
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What This Variant Does
"rs11887534, a SNP in the hepatic cholesterol transporter ABCG8 gene, has been implicated in gallston...
Associated Conditions
Gallbladder disease 4
Sitosterolemia
Sitosterolemia 1
Cardiovascular phenotype
Sitosterolemia 2
ABCG8-related disorder
Gallstones
Gallbladder disease 4
Sitosterolemia
Sitosterolemia 1
Cardiovascular phenotype
Sitosterolemia 2
ABCG8-related disorder
Gallstones
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Gallstone disease | C | OR: 2.07 | 2E-715 | PubMed |
| Gallstone disease | — | OR: 1.94 | 1E-353 | PubMed |
| Cholelithiasis | C | OR: 0.75 | 1E-176 | PubMed |
| Gallstone disease | C | OR: 1.78 | 2E-75 | PubMed |
| Cholesteryl Esters in Medium VLDL | C | β: 0.06 | 1E-50 | PubMed |
| Concentration of IDL particles | C | β: 0.06 | 2E-50 | PubMed |
| Free cholesterol in large LDL | C | β: 0.06 | 3E-49 | PubMed |
| Free cholesterol in IDL | C | β: 0.06 | 4E-49 | PubMed |
| Cholesterol in IDL | C | β: 0.06 | 6E-49 | PubMed |
| Phospholipids in IDL | C | β: 0.06 | 3E-48 | PubMed |
| Free Cholesterol in LDL | C | β: 0.06 | 5E-48 | PubMed |
| Cholesteryl Esters in IDL | C | β: 0.06 | 1E-47 | PubMed |
| Total lipids in IDL | C | β: 0.06 | 6E-47 | PubMed |
| Clinical LDL cholesterol levels | C | β: 0.06 | 2E-46 | PubMed |
| Free cholesterol in small LDL | C | β: 0.06 | 3E-46 | PubMed |
| Concentration of large LDL particles | C | β: 0.06 | 2E-44 | PubMed |
| Phospholipids in large LDL | C | β: 0.06 | 2E-44 | PubMed |
| Cholesterol in Medium VLDL | C | β: 0.06 | 8E-44 | PubMed |
| Cholesterol in Large LDL | C | β: 0.06 | 1E-43 | PubMed |
| Cholesterol esters in very small VLDL | C | β: 0.06 | 2E-43 | PubMed |
Population Frequencies
gnomAD ALL
0%
1kG AFR
7.6%
1kG ALL
6.1%
1kG AMR
90.3%
1kG EAS
1.4%
1kG EUR
92%
1kG SAS
95.8%
Other Variants in ABCG5