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Mean platelet volume

DOK2 · rs56094005

Where this position leads

What the study found

Who was studied 460,935 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0624 SD unit lower (95% confidence interval 0.053-0.072); p = 2 × 10⁻³⁹.

How common The A allele had a frequency of about 96% in the people studied.

Where it sits Chromosome 8, band 8p21.3 — a missense change in DOK2.

What each result means

A/A Two copies of the version the research linked to Mean platelet volume. 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 Mean platelet volume. That is a smaller link than two copies.

G/G No copy of the version the research linked to Mean platelet volume. This is the starting point the study compared everyone against.

Source

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

Chen MH, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao EL, Zhong X

and 98 more — show all

Manansala R, Laplante V, Chen M, Lo KS, Qian H, Lareau CA, Beaudoin M, Hunt KA, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala K, Cho K, Choquet H, Correa A, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Floyd JS, Broer L, Grarup N, Guo MH, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang QQ, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Lerch MM, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Martin HC, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nauck M, Nikus K, Ouwehand WH, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Roberts DJ, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Trembath RC, Ghanbari M, Völker U, Völzke H, Watkins NA, Zonderman AB, Wilson PWF, Li Y, Butterworth AS, Gauchat JF, Chiang CWK, Li B, Loos RJF, Astle WJ, Evangelou E, van Heel DA, Sankaran VG, Okada Y, Soranzo N, Johnson AD, Reiner AP, Auer PL, Lettre G

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Cell · 2020 · PMID 32888493

Questions about rs56094005

What is rs56094005?

rs56094005 is a single position in the genome, in or near the DOK2 gene. Published research associates it with mean platelet 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 rs56094005 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 rs56094005 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 rs56094005 come from?

GWAS Catalog, Cell 2020, PMID:32888493. 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.

Mean platelet volume (rs56094005). MyGeneLog™. https://www.mygenelog.com/variants/rs56094005

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