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Mean corpuscular hemoglobin concentration

SLC12A7 · rs4535497

Where this position leads

What the study found

Who was studied up to 21,020 European ancestry individuals, up to 3,621 African American individuals, up to 15,062 East Asian individuals.; replicated in 16,389 European and African American individuals..

The effect Each copy of the A allele shifted the measure 0.0019 lower (95% confidence interval 0.0013-0.0025); p = 3 × 10⁻⁸.

Where it sits Chromosome 5, band 5p15.33 — in an intron of SLC12A7.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Mean corpuscular hemoglobin concentration compared to the general population.

A/C Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mean corpuscular hemoglobin concentration.

C/C Published research associates this genotype with typical/baseline likelihood of Mean corpuscular hemoglobin concentration — no copies of the reported risk allele.

Source

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis

van Rooij FJA, Qayyum R, Smith AV, Zhou Y, Trompet S, Tanaka T, Keller MF, Chang LC, Schmidt H, Yang ML, Chen MH, Hayes J

and 88 more — show all

Johnson AD, Yanek LR, Mueller C, Lange L, Floyd JS, Ghanbari M, Zonderman AB, Jukema JW, Hofman A, van Duijn CM, Desch KC, Saba Y, Ozel AB, Snively BM, Wu JY, Schmidt R, Fornage M, Klein RJ, Fox CS, Matsuda K, Kamatani N, Wild PS, Stott DJ, Ford I, Slagboom PE, Yang J, Chu AY, Lambert AJ, Uitterlinden AG, Franco OH, Hofer E, Ginsburg D, Hu B, Keating B, Schick UM, Brody JA, Li JZ, Chen Z, Zeller T, Guralnik JM, Chasman DI, Peters LL, Kubo M, Becker DM, Li J, Eiriksdottir G, Rotter JI, Levy D, Grossmann V, Patel KV, Chen CH, Ridker PM, Tang H, Launer LJ, Rice KM, Li-Gao R, Ferrucci L, Evans MK, Choudhuri A, Trompouki E, Abraham BJ, Yang S, Takahashi A, Kamatani Y, Kooperberg C, Harris TB, Jee SH, Coresh J, Tsai FJ, Longo DL, Chen YT, Felix JF, Yang Q, Psaty BM, Boerwinkle E, Becker LC, Mook-Kanamori DO, Wilson JG, Gudnason V, O'Donnell CJ, Dehghan A, Cupples LA, Nalls MA, Morris AP, Okada Y, Reiner AP, Zon LI, Ganesh SK

BioBank Japan Project

American journal of human genetics · 2017 · PMID 28017375

Questions about rs4535497

What is rs4535497?

rs4535497 is a single position in the genome, in or near the SLC12A7 gene. Published research associates it with mean corpuscular hemoglobin concentration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4535497 linked to?

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

Does having rs4535497 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 rs4535497 come from?

GWAS Catalog, Am J Hum Genet 2016, PMID:28017375. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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