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Standard

Inguinal hernia

near EBF2 · rs11777267

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 A; the catalogue records no effect size ; p = 3 × 10−33.

How common The A allele had a frequency of about 28% in the people studied.

Where it sits Chromosome 8, band 8p21.2 — between genes, 26.1 kb from EBF2.

How common each version is

AG
Korean KRGDB
A 12.8% · G 87.2%
Korean Korea4K
A 11.4% · G 88.6%
Korean Korea1K
A 12.4% · G 87.5%
Japanese ToMMo
A 18.9% · G 81.1%
World gnomAD
A 27.3% · G 72.7%
World 1000 Genomes
A 27.2% · G 72.8%
World TOPMed
A 26.8% · G 73.2%

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 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.
A/G One copy of the version the research linked to Inguinal hernia. That is a smaller link than two copies.
G/G 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 (rs11777267). MyGeneLog™. https://www.mygenelog.com/variants/rs11777267

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