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Inguinal hernia

EBF2 · rs9942838

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.

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10⁻³², with 1 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 13,047 European ancestry cases, 262,499 European ancestry controls; replicated in 4,450 European ancestry cases, 87,398 European ancestry controls.

The effect The reported allele is C; the catalogue records no effect size ; p = 2 × 10⁻³².

How common The C allele had a frequency of about 45% in the people studied.

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

How common each version is

CT

Korean KRGDB

C 15.8% · T 84.2%

Korean Korea4K

C 15.1% · T 84.9%

Korean Korea1K

C 16.5% · T 83.5%

Japanese ToMMo

C 17.8% · T 82.2%

Vietnamese

C 28.5% · T 71.5%

World gnomAD

C 55.4% · T 44.6%

World 1000 Genomes

C 53.7% · T 46.3%

World TOPMed

C 56.2% · T 43.8%

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

C/C 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.

C/T One copy of the version the research linked to Inguinal hernia. That is a smaller link than two copies.

T/T No copy of the version the research linked to Inguinal hernia. This is the starting point the study compared everyone against.

Source

Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank

Wei J, Attaar M, Shi Z, Na R, Resurreccion WK, Haggerty SP, Zheng SL, Helfand BT, Ujiki MB, Xu J

Hernia : the journal of hernias and abdominal wall surgery · 2022 · PMID 34382107

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Inguinal hernia (rs9942838). MyGeneLog™. https://www.mygenelog.com/variants/rs9942838

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