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Glomerular filtration rate (creatinine)

NAT8 · rs4500972

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.

What the study found

Who was studied 110,517 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0108 higher (95% confidence interval 0.0084-0.0132); p = 3 × 10⁻¹⁸.

Where it sits Chromosome 2, band 2p13.1 — in an intron of ALMS1.

What each result means

A/A Two copies of the version the research linked to Glomerular filtration rate (creatinine). 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 Glomerular filtration rate (creatinine). That is a smaller link than two copies.

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

Source

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

Gorski M, van der Most PJ, Teumer A, Chu AY, Li M, Mijatovic V, Nolte IM, Cocca M, Taliun D, Gomez F, Li Y, Tayo B

and 114 more — show all

Tin A, Feitosa MF, Aspelund T, Attia J, Biffar R, Bochud M, Boerwinkle E, Borecki I, Bottinger EP, Chen MH, Chouraki V, Ciullo M, Coresh J, Cornelis MC, Curhan GC, d'Adamo AP, Dehghan A, Dengler L, Ding J, Eiriksdottir G, Endlich K, Enroth S, Esko T, Franco OH, Gasparini P, Gieger C, Girotto G, Gottesman O, Gudnason V, Gyllensten U, Hancock SJ, Harris TB, Helmer C, Höllerer S, Hofer E, Hofman A, Holliday EG, Homuth G, Hu FB, Huth C, Hutri-Kähönen N, Hwang SJ, Imboden M, Johansson Å, Kähönen M, König W, Kramer H, Krämer BK, Kumar A, Kutalik Z, Lambert JC, Launer LJ, Lehtimäki T, de Borst M, Navis G, Swertz M, Liu Y, Lohman K, Loos RJF, Lu Y, Lyytikäinen LP, McEvoy MA, Meisinger C, Meitinger T, Metspalu A, Metzger M, Mihailov E, Mitchell P, Nauck M, Oldehinkel AJ, Olden M, Wjh Penninx B, Pistis G, Pramstaller PP, Probst-Hensch N, Raitakari OT, Rettig R, Ridker PM, Rivadeneira F, Robino A, Rosas SE, Ruderfer D, Ruggiero D, Saba Y, Sala C, Schmidt H, Schmidt R, Scott RJ, Sedaghat S, Smith AV, Sorice R, Stengel B, Stracke S, Strauch K, Toniolo D, Uitterlinden AG, Ulivi S, Viikari JS, Völker U, Vollenweider P, Völzke H, Vuckovic D, Waldenberger M, Jin Wang J, Yang Q, Chasman DI, Tromp G, Snieder H, Heid IM, Fox CS, Köttgen A, Pattaro C, Böger CA, Fuchsberger C

Scientific reports · 2017 · PMID 28452372 · open access

Questions about rs4500972

What is rs4500972?

rs4500972 is a single position in the genome, in or near the NAT8 gene. Published research associates it with 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 rs4500972 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 rs4500972 come from?

GWAS Catalog, Scientific reports 2017, PMID:28452372. 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.

Glomerular filtration rate (creatinine) (rs4500972). MyGeneLog™. https://www.mygenelog.com/variants/rs4500972

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