RS2231142 ABCG2
Upload your DNA to see your genotype for this variant.
What This Variant Does
"rs2231142, also known as Q141K and C421A, is a SNP in the ABCG2 gene, indicating a missense variant....
Associated Conditions
URIC ACID CONCENTRATION
SERUM
QUANTITATIVE TRAIT LOCUS 1
BLOOD GROUP
JUNIOR SYSTEM
rosuvastatin response - Efficacy
Gemcitabine response
rosuvastatin response - Metabolism/PK
ABCG2-related disorder
URIC ACID CONCENTRATION
SERUM
QUANTITATIVE TRAIT LOCUS 1
BLOOD GROUP
JUNIOR SYSTEM
rosuvastatin response - Efficacy
Related Biomarkers
Urate
monitor
strong
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Gout | T | OR: 1.73 | 1E-1421 | PubMed |
| Gout | T | OR: 1.88 | 3E-1400 | PubMed |
| Serum urate levels | T | OR: 0.21 | 1E-938 | PubMed |
| Serum urate levels | T | OR: 0.24 | 8E-679 | PubMed |
| Serum urate levels | T | OR: 0.24 | 2E-305 | PubMed |
| Gout | — | — | 1E-290 | PubMed |
| 4-hydroxychlorothalonil levels | T | OR: 0.56 | 4E-258 | PubMed |
| Gout | T | OR: 2.5 | 3E-255 | PubMed |
| Gouty arthropathy (PheCode 274.11) | G | OR: 0.65 | 3E-252 | PubMed |
| Gout | T | OR: 1.87 | 1E-208 | PubMed |
| Serum uric acid levels | T | OR: 0.11 | 1E-184 | PubMed |
| X-18914 levels | T | OR: 0.47 | 2E-184 | PubMed |
| Gout | T | OR: 1.92 | 4E-170 | PubMed |
| Gout | T | OR: 2 | 6E-170 | PubMed |
| Urate levels | T | OR: 0.22 | 1E-134 | PubMed |
| X-18249 levels | T | OR: 0.4 | 4E-131 | PubMed |
| Gout vs asymptomatic hyperuricemia | T | OR: 1.65 | 3E-109 | PubMed |
| Serum metabolite levels | G | OR: 0.58 | 7E-91 | PubMed |
| Gout | T | OR: 1.33 | 7E-89 | PubMed |
| Gout (PheCode 274.1) | G | OR: 0.64 | 3E-83 | PubMed |
ClinVar Assertions (1)
NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys)
Population Frequencies
gnomAD ALL
11.4%
1kG AFR
1.3%
1kG ALL
11.9%
1kG AMR
14.1%
1kG EAS
70.9%
1kG EUR
90.6%
1kG SAS
9.7%
Other Variants in ABCG2