RUNX2 · rs11498194
Where this position leads
Condition: Inguinal Hernia
Strength of the evidence
Its strongest genetic-study result is p = 10−11, with 1 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 6,816 African American or Afro-Caribbean cases, 112,669 African American or Afro-Caribbean controls, 30,294 European ancestry cases, 410,088 European ancestry controls, 3,160 Hispanic or Latin American cases, 55,423 Hispanic or Latin American controls.
The effect Each copy of the G allele shifted the measure 0.0845 higher (95% confidence interval 0.058-0.111); p = 3 × 10−11.
How common The G allele had a frequency of about 88% in the people studied.
Where it sits Chromosome 6, band 6p21.1 — in an intron of RUNX2.
What ClinVar records
Classification
Benign for Uterine carcinosarcoma, Malignant lymphoma, large B-cell, diffuse; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2018-08-09.
ClinVar record 1221421 NM_001024630.4(RUNX2):c.1021+46G>A
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
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.
rs11498194 is a single position in the genome, in or near the RUNX2 gene. Published research associates it with inguinal hernia (phecode 550.1). 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 Inguinal Hernia. The research behind each link, and its sources, are set out on that condition page.
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, Science (New York, N.Y.) 2024, PMID:39024449. 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.
Inguinal hernia (PheCode 550.1) (rs11498194). MyGeneLog™. https://www.mygenelog.com/variants/rs11498194