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Estimated glomerular filtration rate

RAI1 · rs12942059

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

1 / 4

Its strongest genetic-study result is p = 10−9, with 3 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 70,762 European ancestry diabetic individuals, 152,624 European ancestry non-diabetic individuals, 20,967 African American diabetic individuals, 36,369 African American non-diabetic individuals; replicated in 567,401 European ancestry individuals, 165,726 East Asian ancestry individuals, 13,359 South Asian ancestry individuals, 13,842 African American ancestry individuals, 4,961 Hispanic ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0019 lower (95% confidence interval 0.0013-0.0025); p = 6 × 10−10.

How common The A allele had a frequency of about 38% in the people studied.

Where it sits Chromosome 17, band 17p11.2 — in an intron of RAI1.

How common each version is

AG
Korean KRGDB
A 8.5% · G 91.5%
Korean Korea4K
A 8.7% · G 91.3%
Japanese ToMMo
A 11.7% · G 88.3%
Vietnamese
A 8.4% · G 91.6%
World gnomAD
A 28.4% · G 71.6%
World 1000 Genomes
A 17.4% · G 82.6%
World TOPMed
A 27.7% · G 72.3%

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 Estimated glomerular filtration rate. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Estimated glomerular filtration rate. That is a smaller link than two copies.
G/G No copy of the version the research linked to Estimated glomerular filtration rate. This is the starting point the study compared everyone against.
Source
Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program
Hellwege JN, Velez Edwards DR, Giri A, Qiu C, Park J, Torstenson ES, Keaton JM, Wilson OD, Robinson-Cohen C, Chung CP, Roumie CL, Klarin D
and 18 more — show all
Damrauer SM, DuVall SL, Siew E, Akwo EA, Wuttke M, Gorski M, Li M, Li Y, Gaziano JM, Wilson PWF, Tsao PS, O'Donnell CJ, Kovesdy CP, Pattaro C, Köttgen A, Susztak K, Edwards TL, Hung AM
Nature communications · 2019 · PMID 31451708 · open access

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 (rs12942059). MyGeneLog™. https://www.mygenelog.com/variants/rs12942059

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