RS1127354 ITPA
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What This Variant Does
"rs1127354 (Pro32Thr/P32T, 94C>
Associated Conditions
Inosine triphosphatase deficiency
peginterferon alfa-2b and ribavirin response - Toxicity
Inosine triphosphatase deficiency
peginterferon alfa-2b and ribavirin response - Toxicity
GWAS Studies (8)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Inosine triphosphate pyrophosphatase levels | A | OR: 1.51 | 3E-1171 | PubMed |
| Inosine triphosphate pyrophosphatase levels | A | OR: 1.65 | 6E-241 | PubMed |
| Chronic hepatitis C infection | A | — | 2E-58 | PubMed |
| Ribavirin-induced anemia | A | — | 4E-44 | PubMed |
| Inosine triphosphate pyrophosphatase level in Chronic kidney disease with hypertension and no diabetes (18916_25) | A | OR: 1.27 | 1E-22 | PubMed |
| Skeletal muscle ITPA levels | A | — | 5E-9 | PubMed |
| Aorta ITPA levels | A | — | 2E-8 | PubMed |
| Liver ITPA levels | A | — | 2E-7 | PubMed |
ClinVar Assertions (1)
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr)
Population Frequencies
gnomAD ALL
92.4%
1kG AFR
95.5%
1kG ALL
91.1%
1kG AMR
95.8%
1kG EAS
83.1%
1kG EUR
92.9%
1kG SAS
87.8%
Other Variants in ITPA