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Standard

CTRC protein levels

near SLC2A6 · rs55978893

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−20, with 2 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 0.0561 lower (95% confidence interval 0.043-0.069); p = 3 × 10−20.

How common The A allele had a frequency of about 24% in the people studied.

Where it sits Chromosome 9, band 9q34.2 — between genes, 7.2 kb from SLC2A6.

How common each version is

AT
Korean KRGDB
A 11.5% · T 88.5%
Korean Korea4K
A 11.7% · T 88.3%
Korean Korea1K
A 11.5% · T 88.5%
Japanese ToMMo
A 14.1% · T 85.9%
Vietnamese
A 9.4% · T 90.6%
World gnomAD
A 22.6% · T 77.4%
World 1000 Genomes
A 19.4% · T 80.5%
World TOPMed
A 22.9% · T 77.1%

By ancestry gnomAD

East Asian
A 10.9% · T 89.1%
European (non-Finnish)
A 22.8% · T 77.2%
African / African American
A 27.4% · T 72.6%
South Asian
A 16.1% · T 83.9%
Admixed American (Latino)
A 18.7% · T 81.3%
Middle Eastern
A 21.1% · T 78.9%
Finnish
A 17.1% · T 82.9%
Ashkenazi Jewish
A 21.6% · T 78.4%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

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

Quoting this page

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CTRC protein levels (rs55978893). MyGeneLog™. https://www.mygenelog.com/variants/rs55978893

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