MUC5B · rs113740363
Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 568 European ancestry cases, 1,860 European ancestry controls.
The effect The reported allele is G; the catalogue records no effect size ; p = 8 × 10−17.
Where it sits Chromosome 11, band 11p15.5 — a missense change in MUC5B.
What ClinVar records
Classification
Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2019-12-31.
ClinVar record 720711 NM_002458.3(MUC5B):c.16996A>G (p.Ile5666Val)
What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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.
rs113740363 is a single position in the genome, in or near the MUC5B gene. Published research associates it with anorectal malformation. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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, PloS one 2019, PMID:31136621. 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.
Anorectal malformation (rs113740363). MyGeneLog™. https://www.mygenelog.com/variants/rs113740363