ITPA · rs6139030
Strength of the evidence
Its strongest genetic-study result is p = 10−25, with 2 associations in the GWAS Catalog.
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 303 Japanese ancestry cases; replicated in 391 Japanese ancestry cases.
The effect Each copy of the T allele carried 25.00 times the odds of Response to hepatitis C treatment (95% confidence interval 11.11-50.0); p = 2 × 10−25.
How common The T allele had a frequency of about 83% in the people studied.
Where it sits Chromosome 20, band 20p13 — in an intron of ITPA.
How common each version is
CT
C 15.3% · T 84.7%
C 14.3% · T 85.7%
C 13.5% · T 86.5%
C 15.5% · T 84.5%
C 22.6% · T 77.4%
C 8.7% · T 91.3%
C 11.0% · T 89.0%
C 8.6% · T 91.4%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.
rs6139030 is a single position in the genome, in or near the ITPA gene. Published research associates it with response to hepatitis c treatment. 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.
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, Hum Mol Genet 2011, PMID:21659334. 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.
Response to hepatitis C treatment (rs6139030). MyGeneLog™. https://www.mygenelog.com/variants/rs6139030