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Inguinal hernia

EBF2 · rs6991952

Where this position leads

Condition: Inguinal Hernia

rs6991952 Condition: Inguinal Hernia Inguinal Hernia Condition rs6991952 rs6991952 EBF2

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−43, with 2 associations in the GWAS Catalog.

How this is scored

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 5,295 European ancestry cases, 67,510 European ancestry controls; replicated in 9,701 European ancestry cases, 82,743 European ancestry controls.

The effect Each copy of the G allele carried 1.11 times the odds of Inguinal hernia (95% confidence interval 1.08-1.14); p = 7 × 10−15.

How common The G allele had a frequency of about 43% in the people studied.

Where it sits Chromosome 8, band 8p21.2 — in an intron of EBF2.

How common each version is

AG
Korean KRGDB
A 79.1% · G 20.9%
Korean Korea4K
A 80.6% · G 19.4%
Japanese ToMMo
A 73.5% · G 26.5%
Vietnamese
A 78.3% · G 21.7%
World gnomAD
A 51.8% · G 48.2%
World 1000 Genomes
A 53.2% · G 46.8%
World TOPMed
A 52.8% · G 47.2%

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.

What each result means

A/A No copy of the version the research linked to Inguinal hernia. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Inguinal hernia. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Inguinal hernia. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia
Jorgenson E, Makki N, Shen L, Chen DC, Tian C, Eckalbar WL, Hinds D, Ahituv N, Avins A
Nature communications · 2015 · PMID 26686553 · open access

Questions about rs6991952

What is rs6991952?

rs6991952 is a single position in the genome, in or near the EBF2 gene. Published research associates it with inguinal hernia. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs6991952 linked to?

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

Does having rs6991952 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 rs6991952 come from?

GWAS Catalog, Nat Commun 2015, PMID:26686553. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Inguinal hernia (rs6991952). MyGeneLog™. https://www.mygenelog.com/variants/rs6991952

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