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Standard

TPSAB1 protein levels

near TELO2 · rs13333529

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−29, 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 0.212 lower (95% confidence interval 0.17-0.25); p = 9 × 10−30.

How common The A allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 16, band 16p13.3 — between genes, 0.6 kb from TELO2.

How common each version is

AC
Korean KRGDB
A 35.4% · C 64.6%
Korean Korea4K
A 34.8% · C 65.2%
Korean Korea1K
A 35.9% · C 64.1%
Japanese ToMMo
A 34.3% · C 65.7%
Vietnamese
A 28.9% · C 71.1%
World gnomAD
A 4.4% · C 95.6%
World 1000 Genomes
A 11.6% · C 88.4%
World TOPMed
A 4.0% · C 96.0%

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 TPSAB1 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/C One copy of the version the research linked to TPSAB1 protein levels. That is a smaller link than two copies.
C/C No copy of the version the research linked to TPSAB1 protein levels. This is the starting point the study compared everyone against.
Source

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TPSAB1 protein levels (rs13333529). MyGeneLog™. https://www.mygenelog.com/variants/rs13333529

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