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Ulcerative colitis

IL7R · rs3194051

Where this position leads

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 6,687 European ancestry cases, 19,718 European ancestry controls; replicated in 9,628 European ancestry cases, 12,917 European ancestry controls.

The effect Each copy of the G allele carried 1.07 times the odds of Ulcerative colitis (95% confidence interval 1.02-1.12); p = 4 × 10⁻⁸.

How common The G allele had a frequency of about 27% in the people studied.

Where it sits Chromosome 5, band 5p13.2 — a missense change in IL7R.

What ClinVar records

Classification Benign for Immunodeficiency 104; reviewed by expert panel (3 of 4 stars, 11 submitters), last evaluated 2024-04-03. ClinVar record 134533 NM_002185.5(IL7R):c.1066A>G (p.Ile356Val)

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 each result means

A/A No copy of the version the research linked to Ulcerative colitis. This is the starting point the study compared everyone against.

A/G One copy of the version the research linked to Ulcerative colitis. That is a smaller link than two copies.

G/G Two copies of the version the research linked to Ulcerative colitis. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, Lee JC, Goyette P, Imielinski M, Latiano A, Lagacé C, Scott R

and 101 more — show all

Amininejad L, Bumpstead S, Baidoo L, Baldassano RN, Barclay M, Bayless TM, Brand S, Büning C, Colombel JF, Denson LA, De Vos M, Dubinsky M, Edwards C, Ellinghaus D, Fehrmann RS, Floyd JA, Florin T, Franchimont D, Franke L, Georges M, Glas J, Glazer NL, Guthery SL, Haritunians T, Hayward NK, Hugot JP, Jobin G, Laukens D, Lawrance I, Lémann M, Levine A, Libioulle C, Louis E, McGovern DP, Milla M, Montgomery GW, Morley KI, Mowat C, Ng A, Newman W, Ophoff RA, Papi L, Palmieri O, Peyrin-Biroulet L, Panés J, Phillips A, Prescott NJ, Proctor DD, Roberts R, Russell R, Rutgeerts P, Sanderson J, Sans M, Schumm P, Seibold F, Sharma Y, Simms LA, Seielstad M, Steinhart AH, Targan SR, van den Berg LH, Vatn M, Verspaget H, Walters T, Wijmenga C, Wilson DC, Westra HJ, Xavier RJ, Zhao ZZ, Ponsioen CY, Andersen V, Torkvist L, Gazouli M, Anagnou NP, Karlsen TH, Kupcinskas L, Sventoraityte J, Mansfield JC, Kugathasan S, Silverberg MS, Halfvarson J, Rotter JI, Mathew CG, Griffiths AM, Gearry R, Ahmad T, Brant SR, Chamaillard M, Satsangi J, Cho JH, Schreiber S, Daly MJ, Barrett JC, Parkes M, Annese V, Hakonarson H, Radford-Smith G, Duerr RH, Vermeire S, Weersma RK, Rioux JD

Nature genetics · 2011 · PMID 21297633 · open access

What people read about alongside this

Infection and immunity3 Liver2

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.

Questions about rs3194051

What is rs3194051?

rs3194051 is a single position in the genome, in or near the IL7R gene. Published research associates it with ulcerative colitis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs3194051 linked to?

On MyGeneLog this position is linked to Ulcerative Colitis. The research behind each link, and its sources, are set out on that condition page.

What do people read about alongside rs3194051?

Subjects that appear in the title or abstract of the same papers as this rsID include infection and immunity (3 papers), liver (2 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.

Does having rs3194051 mean I will get this?

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.

Where does the information about rs3194051 come from?

GWAS Catalog, Nat Genet 2011, PMID:21297633. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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.

Ulcerative colitis (rs3194051). MyGeneLog™. https://www.mygenelog.com/variants/rs3194051

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