ITPA · rs7270101
Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.
What the study found
Who was studied 988 European ancestry cases, 198 African American cases, 100 Hispanic cases.
The effect The reported allele is C; the catalogue records no effect size ; p = 9 × 10−76.
How common The C allele had a frequency of about 11% in the people studied.
Where it sits Chromosome 20, band 20p13 — in an intron of ITPA.
What ClinVar records
Classification
drug response for Inosine triphosphatase deficiency, peginterferon alfa-2b and ribavirin response - Toxicity, Developmental and epileptic encephalopathy, 35; reviewed by expert panel (3 of 4 stars, 5 submitters), last evaluated 2021-03-24.
ClinVar record 14747 NM_033453.4(ITPA):c.124+21A>C
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
What people read about alongside this
Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.
rs7270101 is a single position in the genome, in or near the ITPA gene. Published research associates it with chronic hepatitis c infection. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Chronic Hepatitis C. The research behind each link, and its sources, are set out on that condition page.
ITPA carries pharmacogenomic findings for Peginterferon alfa and ribavirin. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.
Subjects that appear in the title or abstract of the same papers as this rsID include infection and immunity (35 papers), liver (6 papers), fertility (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
GWAS Catalog, Nature 2010, PMID:20173735. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Chronic hepatitis C infection (rs7270101). MyGeneLog™. https://www.mygenelog.com/variants/rs7270101