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Estimated glomerular filtration rate

NT5C1B · rs13417750

Where this position leads

Condition: Kidney Function

rs13417750 Condition: Kidney Function Kidney Function Condition rs13417750 rs13417750 NT5C1B

What the study found

Who was studied 134,070 European ancestry individuals, 143,658 East Asian ancestry individuals, 26,344 Hispanic or Latino ancestry individuals, 8,224 African American individuals.

The effect Each copy of the A allele shifted the measure 0.439 ml/min/1.73m2 lower (95% confidence interval 0.23-0.65); p = 1 × 10−8.

How common The A allele had a frequency of about 19% in the people studied.

Where it sits Chromosome 2, band 2p24.2 — between genes, 54.6 kb from RDH14.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Estimated glomerular filtration rate compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Estimated glomerular filtration rate.
G/G Published research associates this genotype with typical/baseline likelihood of Estimated glomerular filtration rate — no copies of the reported risk allele.
Source
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
Morris AP, Le TH, Wu H, Akbarov A, van der Most PJ, Hemani G, Smith GD, Mahajan A, Gaulton KJ, Nadkarni GN, Valladares-Salgado A, Wacher-Rodarte N
and 60 more — show all
Mychaleckyj JC, Dueker ND, Guo X, Hai Y, Haessler J, Kamatani Y, Stilp AM, Zhu G, Cook JP, Ärnlöv J, Blanton SH, de Borst MH, Bottinger EP, Buchanan TA, Cechova S, Charchar FJ, Chu PL, Damman J, Eales J, Gharavi AG, Giedraitis V, Heath AC, Ipp E, Kiryluk K, Kramer HJ, Kubo M, Larsson A, Lindgren CM, Lu Y, Madden PAF, Montgomery GW, Papanicolaou GJ, Raffel LJ, Sacco RL, Sanchez E, Stark H, Sundstrom J, Taylor KD, Xiang AH, Zivkovic A, Lind L, Ingelsson E, Martin NG, Whitfield JB, Cai J, Laurie CC, Okada Y, Matsuda K, Kooperberg C, Chen YI, Rundek T, Rich SS, Loos RJF, Parra EJ, Cruz M, Rotter JI, Snieder H, Tomaszewski M, Humphreys BD, Franceschini N
Nature communications · 2019 · PMID 30604766 · open access

Questions about rs13417750

What is rs13417750?

rs13417750 is a single position in the genome, in or near the NT5C1B gene. Published research associates it with estimated glomerular filtration rate. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs13417750 linked to?

On MyGeneLog this position is linked to Kidney Function. The research behind each link, and its sources, are set out on that condition page.

Does having rs13417750 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 rs13417750 come from?

GWAS Catalog, Nat Commun 2019, PMID:30604766. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Estimated glomerular filtration rate (rs13417750). MyGeneLog™. https://www.mygenelog.com/variants/rs13417750

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