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Standard

Creatinine levels

PIP5K1B · rs2151422

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−9, 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 98,316 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.000609 higher (95% confidence interval 0.00041-0.0008); p = 5 × 10−10.

How common The C allele had a frequency of about 36% in the people studied.

Where it sits Chromosome 9, band 9q21.11 — in an intron of PIP5K1B.

How common each version is

AC
Korean KRGDB
A 80.4% · C 19.6%
Korean Korea4K
A 79.3% · C 20.7%
Japanese ToMMo
A 84.7% · C 15.3%
Vietnamese
A 74.1% · C 25.9%
World gnomAD
A 68.7% · C 31.3%
World 1000 Genomes
A 73.8% · C 26.2%
World TOPMed
A 69.8% · C 30.2%

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

Quoting this page

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Creatinine levels (rs2151422). MyGeneLog™. https://www.mygenelog.com/variants/rs2151422

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