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Standard

KIRREL2 protein levels

AXIN1 · rs34844528

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−17, 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 A allele shifted the measure 0.0717 higher (95% confidence interval 0.054-0.089); p = 9 × 10−18.

How common The A allele had a frequency of about 12% in the people studied.

Where it sits Chromosome 16, band 16p13.3 — in an intron of AXIN1.

How common each version is

AG
Korean KRGDB
A 14.1% · G 85.9%
Korean Korea4K
A 13.5% · G 86.5%
Korean Korea1K
A 14.3% · G 85.7%
Japanese ToMMo
A 10.6% · G 89.4%
Vietnamese
A 14.0% · G 86.0%
World gnomAD
A 9.2% · G 90.8%
World 1000 Genomes
A 11.6% · G 88.4%
World TOPMed
A 8.6% · G 91.4%

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 KIRREL2 protein levels. 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 KIRREL2 protein levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to KIRREL2 protein levels. This is the starting point the study compared everyone against.
Source

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KIRREL2 protein levels (rs34844528). MyGeneLog™. https://www.mygenelog.com/variants/rs34844528

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