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Red blood cell count

MMP26 · rs114310641

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 20,220 Amish, White ancestry individuals, 384 Asian ancestry individuals, 10,747 Black individuals, 13,119 Central American ancestry, Cuban ancestry, Dominican ancestry, Mexican ancestry, Puerto Rican ancestry, South American ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.13 higher (95% confidence interval 0.091-0.169); p = 4 × 10−11.

Where it sits Chromosome 11, band 11p15.4 — in an intron of MMP26.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Red blood cell count — no copies of the reported risk allele.
C/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Red blood cell count.
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Red blood cell count compared to the general population.
Source
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program
Hu Y, Stilp AM, McHugh CP, Rao S, Jain D, Zheng X, Lane J, Méric de Bellefon S, Raffield LM, Chen MH, Yanek LR, Wheeler M
and 67 more — show all
Yao Y, Ren C, Broome J, Moon JY, de Vries PS, Hobbs BD, Sun Q, Surendran P, Brody JA, Blackwell TW, Choquet H, Ryan K, Duggirala R, Heard-Costa N, Wang Z, Chami N, Preuss MH, Min N, Ekunwe L, Lange LA, Cushman M, Faraday N, Curran JE, Almasy L, Kundu K, Smith AV, Gabriel S, Rotter JI, Fornage M, Lloyd-Jones DM, Vasan RS, Smith NL, North KE, Boerwinkle E, Becker LC, Lewis JP, Abecasis GR, Hou L, O'Connell JR, Morrison AC, Beaty TH, Kaplan R, Correa A, Blangero J, Jorgenson E, Psaty BM, Kooperberg C, Walton RT, Kleinstiver BP, Tang H, Loos RJF, Soranzo N, Butterworth AS, Nickerson D, Rich SS, Mitchell BD, Johnson AD, Auer PL, Li Y, Mathias RA, Lettre G, Pankratz N, Laurie CC, Laurie CA, Bauer DE, Conomos MP, Reiner AP
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
American journal of human genetics · 2021 · PMID 33887194

Questions about rs114310641

What is rs114310641?

rs114310641 is a single position in the genome, in or near the MMP26 gene. Published research associates it with red blood cell count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs114310641 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 rs114310641 come from?

GWAS Catalog, American journal of human genetics 2021, PMID:33887194. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Red blood cell count (rs114310641). MyGeneLog™. https://www.mygenelog.com/variants/rs114310641

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