Standard

Estimated glomerular filtration rate (creatinine)

CHD9 · rs12597487

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10⁻²⁰, 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 1,004,040 European ancestry individuals; replicated in 417,288 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0028 lower (95% confidence interval 0.0022-0.0034); p = 8 × 10⁻²¹.

How common The C allele had a frequency of about 29% in the people studied.

Where it sits Chromosome 16, band 16q12.2 — in an intron of CHD9.

What each result means

C/C Two copies of the version the research linked to Estimated glomerular filtration rate (creatinine). That is the strongest link of the three results. A link in a study is not a diagnosis.

C/T One copy of the version the research linked to Estimated glomerular filtration rate (creatinine). That is a smaller link than two copies.

T/T No copy of the version the research linked to Estimated glomerular filtration rate (creatinine). This is the starting point the study compared everyone against.

Source

Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals

Stanzick KJ, Li Y, Schlosser P, Gorski M, Wuttke M, Thomas LF, Rasheed H, Rowan BX, Graham SE, Vanderweff BR, Patil SB, Robinson-Cohen C

and 12 more — show all

Gaziano JM, O'Donnell CJ, Willer CJ, Hallan S, Åsvold BO, Gessner A, Hung AM, Pattaro C, Köttgen A, Stark KJ, Heid IM, Winkler TW

VA Million Veteran Program

Nature communications · 2021 · PMID 34272381 · open access

Questions about rs12597487

What is rs12597487?

rs12597487 is a single position in the genome, in or near the CHD9 gene. Published research associates it with estimated glomerular filtration rate (creatinine). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs12597487 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs12597487 come from?

GWAS Catalog, Nature communications 2021, PMID:34272381. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Estimated glomerular filtration rate (creatinine) (rs12597487). MyGeneLog™. https://www.mygenelog.com/variants/rs12597487

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