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Platelet count

PLEC1 · rs6995402

Where this position leads

What the study found

Who was studied 38,891 European ancestry individuals, 1,661 Val Borbera (founder/genetic isolate) individuals, 521 Carlantino (founder/genetic isolate) individuals, 1,198 Friuli Venezia Giulia (founder/genetic isolate) individuals, 1,213 South Tyrolean (founder/genetic isolate) individuals, 890 Sorbian (founder/genetic isolate) individuals, 4,292 Sardinian (founder/genetic isolate) individuals; replicated in Up to 16,949 European ancestry individuals, 854 Cliento (founder/genetic isolate) individuals, 1,035 Talana (founder/genetic isolate) individuals.

The effect Each copy of the C allele shifted the measure 2.3 10^9/l higher (95% confidence interval 1.58-3.03); p = 5 × 10⁻¹⁰.

Where it sits Chromosome 8, band 8q24.3 — in an intron of PLEC.

What each result means

C/C Two copies of the version the research linked to Platelet count. That is the strongest link of the three results. A link in a study is not a diagnosis.

C/T One copy of the version the research linked to Platelet count. That is a smaller link than two copies.

T/T No copy of the version the research linked to Platelet count. This is the starting point the study compared everyone against.

Source

New gene functions in megakaryopoiesis and platelet formation

Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, Serbanovic-Canic J, Elling U, Goodall AH, Labrune Y, Lopez LM, Mägi R

and 151 more — show all

Meacham S, Okada Y, Pirastu N, Sorice R, Teumer A, Voss K, Zhang W, Ramirez-Solis R, Bis JC, Ellinghaus D, Gögele M, Hottenga JJ, Langenberg C, Kovacs P, O'Reilly PF, Shin SY, Esko T, Hartiala J, Kanoni S, Murgia F, Parsa A, Stephens J, van der Harst P, Ellen van der Schoot C, Allayee H, Attwood A, Balkau B, Bastardot F, Basu S, Baumeister SE, Biino G, Bomba L, Bonnefond A, Cambien F, Chambers JC, Cucca F, D'Adamo P, Davies G, de Boer RA, de Geus EJ, Döring A, Elliott P, Erdmann J, Evans DM, Falchi M, Feng W, Folsom AR, Frazer IH, Gibson QD, Glazer NL, Hammond C, Hartikainen AL, Heckbert SR, Hengstenberg C, Hersch M, Illig T, Loos RJ, Jolley J, Khaw KT, Kühnel B, Kyrtsonis MC, Lagou V, Lloyd-Jones H, Lumley T, Mangino M, Maschio A, Mateo Leach I, McKnight B, Memari Y, Mitchell BD, Montgomery GW, Nakamura Y, Nauck M, Navis G, Nöthlings U, Nolte IM, Porteous DJ, Pouta A, Pramstaller PP, Pullat J, Ring SM, Rotter JI, Ruggiero D, Ruokonen A, Sala C, Samani NJ, Sambrook J, Schlessinger D, Schreiber S, Schunkert H, Scott J, Smith NL, Snieder H, Starr JM, Stumvoll M, Takahashi A, Tang WH, Taylor K, Tenesa A, Lay Thein S, Tönjes A, Uda M, Ulivi S, van Veldhuisen DJ, Visscher PM, Völker U, Wichmann HE, Wiggins KL, Willemsen G, Yang TP, Hua Zhao J, Zitting P, Bradley JR, Dedoussis GV, Gasparini P, Hazen SL, Metspalu A, Pirastu M, Shuldiner AR, Joost van Pelt L, Zwaginga JJ, Boomsma DI, Deary IJ, Franke A, Froguel P, Ganesh SK, Jarvelin MR, Martin NG, Meisinger C, Psaty BM, Spector TD, Wareham NJ, Akkerman JW, Ciullo M, Deloukas P, Greinacher A, Jupe S, Kamatani N, Khadake J, Kooner JS, Penninger J, Prokopenko I, Stemple D, Toniolo D, Wernisch L, Sanna S, Hicks AA, Rendon A, Ferreira MA, Ouwehand WH, Soranzo N

Nature · 2011 · PMID 22139419

Questions about rs6995402

What is rs6995402?

rs6995402 is a single position in the genome, in or near the PLEC1 gene. Published research associates it with platelet count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs6995402 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 rs6995402 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 rs6995402 come from?

GWAS Catalog, Nature 2011, PMID:22139419. 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.

Platelet count (rs6995402). MyGeneLog™. https://www.mygenelog.com/variants/rs6995402

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