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Standard

NAAA protein levels

SHROOM3 · rs184081623

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−46, 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 0.136 higher (95% confidence interval 0.11-0.16); p = 1 × 10−46.

How common The A allele had a frequency of about 5% in the people studied.

Where it sits Chromosome 4, band 4q21.1 — in an intron of SHROOM3.

How common each version is

AT
Korean KRGDB
A 0.3% · T 99.7%
Korean Korea4K
A 0.1% · T 99.9%
Korean Korea1K
A 0.2% · T 99.8%
Japanese ToMMo
A 0.7% · T 99.3%
World gnomAD
A 3.3% · T 96.7%
World 1000 Genomes
A 1.7% · T 98.3%
World TOPMed
A 2.9% · T 97.1%

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

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NAAA protein levels (rs184081623). MyGeneLog™. https://www.mygenelog.com/variants/rs184081623

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