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Standard

Inguinal hernia

near EBF2 · rs11135893

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 T; the catalogue records no effect size ; p = 1 × 10−32.

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

Where it sits Chromosome 8, band 8p21.2 — between genes, 22.9 kb from EBF2.

How common each version is

CT
Korean KRGDB
C 87.6% · T 12.4%
Korean Korea4K
C 88.0% · T 12.0%
Korean Korea1K
C 87.4% · T 12.6%
Japanese ToMMo
C 82.0% · T 18.0%
Vietnamese
C 85.9% · T 14.1%
World gnomAD
C 72.6% · T 27.4%
World 1000 Genomes
C 72.7% · T 27.3%
World TOPMed
C 73.2% · T 26.8%

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 No copy of the version the research linked to Inguinal hernia. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Inguinal hernia. That is a smaller link than two copies.
T/T 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

Quoting this page

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Inguinal hernia (rs11135893). MyGeneLog™. https://www.mygenelog.com/variants/rs11135893

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