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Standard

Creatinine levels

SIPA1L3 · rs73034935

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−23, 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 434,646 British ancestry individuals, 8,796 British Central/South Asian individuals, 6,573 British African individuals.

The effect Each copy of the A allele shifted the measure 0.02 mmol/L lower (95% confidence interval 0.02-0.02); p = 2 × 10−23.

Where it sits Chromosome 19, band 19q13.13 — in an intron of SIPA1L3.

How common each version is

AT
Korean KRGDB
A 3.4% · T 96.6%
Korean Korea1K
A 2.4% · T 97.7%
Japanese ToMMo
A 2.3% · T 97.7%
World gnomAD
A 28.3% · T 71.7%
World 1000 Genomes
A 20.4% · T 79.5%
World TOPMed
A 27.6% · T 72.5%

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

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Creatinine levels (rs73034935). MyGeneLog™. https://www.mygenelog.com/variants/rs73034935

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