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Mean corpuscular volume

HBG2 · rs547260160

Where this position leads

Condition: Blood Cell Counts

rs547260160 Condition: Blood Cell Counts Blood Cell Counts Condition rs547260160 rs547260160 HBG2

What the study found

Who was studied 22,267 Amish, White ancestry individuals, 447 Asian ancestry individuals, 12,285 Black individuals, 13,831 Central American ancestry, Cuban ancestry, Dominican ancestry, Mexican ancestry, Puerto Rican ancestry, South American ancestry individuals.

The effect Each copy of the T allele shifted the measure 6.38 lower (95% confidence interval 5.09-7.67); p = 6 × 10−22.

Where it sits Chromosome 11, band 11p15.4 — in an intron of HBG2.

What each result means

C/C No copy of the version the research linked to Mean corpuscular volume. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Mean corpuscular volume. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Mean corpuscular volume. That is the strongest link of the three results. A link in a study is not a diagnosis.
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 rs547260160

What is rs547260160?

rs547260160 is a single position in the genome, in or near the HBG2 gene. Published research associates it with mean corpuscular volume. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs547260160 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 rs547260160 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 rs547260160 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.

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Mean corpuscular volume (rs547260160). MyGeneLog™. https://www.mygenelog.com/variants/rs547260160

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