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Sensitive

Otosclerosis

near TNFSF11 · rs73172296

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−9, 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 3,504 European ancestry cases, 861,198 European ancestry controls.

The effect Each copy of the A allele carried 1.26 times the odds of Otosclerosis (95% confidence interval 1.17-1.36); p = 1 × 10−9.

How common The A allele had a frequency of about 11% in the people studied.

Where it sits Chromosome 13, band 13q14.11 — between genes, 37 kb from TNFSF11.

How common each version is

AG
Korean Korea4K
A 0.0% · G 100.0%
Japanese ToMMo
G 100.0%
World gnomAD
A 5.7% · G 94.3%
World 1000 Genomes
A 2.5% · G 97.5%
World TOPMed
A 4.7% · G 95.3%

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 Otosclerosis. 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 Otosclerosis. That is a smaller link than two copies.
G/G No copy of the version the research linked to Otosclerosis. This is the starting point the study compared everyone against.
Source

Quoting this page

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Otosclerosis (rs73172296). MyGeneLog™. https://www.mygenelog.com/variants/rs73172296

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