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Standard

Inguinal hernia

near EBF2 · rs11135894

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−33, 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 G; the catalogue records no effect size ; p = 5 × 10−34.

How common The G allele had a frequency of about 29% in the people studied.

Where it sits Chromosome 8, band 8p21.2 — between genes, 8.2 kb from EBF2.

How common each version is

GT
Korean KRGDB
G 16.9% · T 83.1%
Korean Korea4K
G 16.1% · T 83.9%
Korean Korea1K
G 17.2% · T 82.8%
Japanese ToMMo
G 24.0% · T 76.0%
Vietnamese
G 17.6% · T 82.4%
World gnomAD
G 29.0% · T 71.0%
World 1000 Genomes
G 30.1% · T 69.8%
World TOPMed
G 29.1% · T 70.9%

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

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.
G/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

Quoting this page

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Inguinal hernia (rs11135894). MyGeneLog™. https://www.mygenelog.com/variants/rs11135894

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