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Standard

Creatinine levels

ATXN7 · rs10510903

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 507,850 East Asian ancestry individuals, 420,829 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0151 lower (95% confidence interval 0.012-0.019); p = 2 × 10−17.

Where it sits Chromosome 3, band 3p14.1 — in an intron of ATXN7.

How common each version is

CG
Korean KRGDB
C 85.7% · G 14.3%
Korean Korea4K
C 85.7% · G 14.3%
Korean Korea1K
C 86.6% · G 13.4%
Japanese ToMMo
C 87.9% · G 12.1%
Vietnamese
C 90.7% · G 9.3%
World gnomAD
C 89.7% · G 10.3%
World 1000 Genomes
C 89.0% · G 11.0%
World TOPMed
C 89.0% · G 11.0%

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

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

Quoting this page

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Creatinine levels (rs10510903). MyGeneLog™. https://www.mygenelog.com/variants/rs10510903

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