RS7270101 ITPA
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What This Variant Does
"[OMIM:?] [GWAS:Chronic Hepatitis C infection]
Associated Conditions
Inosine triphosphatase deficiency
peginterferon alfa-2b and ribavirin response - Toxicity
Developmental and epileptic encephalopathy
35
Inosine triphosphatase deficiency
peginterferon alfa-2b and ribavirin response - Toxicity
Developmental and epileptic encephalopathy
35
GWAS Studies (1)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Chronic hepatitis C infection | C | — | 9E-76 | PubMed |
ClinVar Assertions (1)
NM_033453.4(ITPA):c.124+21A>C
Population Frequencies
gnomAD ALL
11.8%
1kG AFR
7.1%
1kG ALL
5.9%
1kG AMR
91.8%
1kG EAS
100%
1kG EUR
87.1%
1kG SAS
98.5%
Other Variants in ITPA