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Ulcerative colitis

NOTCH1 · rs13300218

Where this position leads

Condition: Ulcerative Colitis

rs13300218 Condition: Ulcerative Colitis Ulcerative Colitis Condition rs13300218 rs13300218 NOTCH1

What the study found

Who was studied 6,968 European ancestry cases, 20,464 European ancestry controls; replicated in 10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls.

The effect Each copy of the G allele carried 1.14 times the odds of Ulcerative colitis; p = 2 × 10−10.

How common The G allele had a frequency of about 90% in the people studied.

Where it sits Chromosome 9, band 9q34.3 — in an intron of NOTCH1.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-26. ClinVar record 1233786 NM_017617.5(NOTCH1):c.4587-85C>T

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
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations
Liu JZ, van Sommeren S, Huang H, Ng SC, Alberts R, Takahashi A, Ripke S, Lee JC, Jostins L, Shah T, Abedian S, Cheon JH
and 28 more — show all
Cho J, Dayani NE, Franke L, Fuyuno Y, Hart A, Juyal RC, Juyal G, Kim WH, Morris AP, Poustchi H, Newman WG, Midha V, Orchard TR, Vahedi H, Sood A, Sung JY, Malekzadeh R, Westra HJ, Yamazaki K, Yang SK, Barrett JC, Alizadeh BZ, Parkes M, Bk T, Daly MJ, Kubo M, Anderson CA, Weersma RK
International Multiple Sclerosis Genetics Consortium · International IBD Genetics Consortium
Nature genetics · 2015 · PMID 26192919

Questions about rs13300218

What is rs13300218?

rs13300218 is a single position in the genome, in or near the NOTCH1 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 rs13300218 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.

Does having rs13300218 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 rs13300218 come from?

GWAS Catalog, Nat Genet 2015, PMID:26192919. 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 (rs13300218). MyGeneLog™. https://www.mygenelog.com/variants/rs13300218

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