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CNTN5 protein levels

CNTN5 · rs10790497

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−285, 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 47,745 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.186 lower (95% confidence interval 0.17-0.2); p = 9 × 10−286.

How common The G allele had a frequency of about 35% in the people studied.

Where it sits Chromosome 11, band 11q22.1 — in an intron of CNTN5.

How common each version is

AG
Korean KRGDB
A 87.5% · G 12.5%
Korean Korea4K
A 88.8% · G 11.2%
Japanese ToMMo
A 86.2% · G 13.8%
Vietnamese
A 84.7% · G 15.3%
World gnomAD
A 64.8% · G 35.2%
World 1000 Genomes
A 69.1% · G 30.9%
World TOPMed
A 64.1% · G 35.9%

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

A/A No copy of the version the research linked to CNTN5 protein levels. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to CNTN5 protein levels. That is a smaller link than two copies.
G/G Two copies of the version the research linked to CNTN5 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

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CNTN5 protein levels (rs10790497). MyGeneLog™. https://www.mygenelog.com/variants/rs10790497

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