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Standard

Creatinine levels

BICC1 · rs57396248

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−14, 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 T allele shifted the measure 0.0106 lower (95% confidence interval 0.0079-0.0133); p = 7 × 10−15.

Where it sits Chromosome 10, band 10q21.1 — in an intron of BICC1.

How common each version is

GT
Korean Korea4K
G 4.4% · T 95.6%
Japanese ToMMo
G 1.2% · T 98.8%
World gnomAD
G 9.2% · T 90.8%
World 1000 Genomes
G 54.9% · T 45.1%

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

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

Quoting this page

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Creatinine levels (rs57396248). MyGeneLog™. https://www.mygenelog.com/variants/rs57396248

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