Standard
Platelet count
PSTPIP2 · rs57259994
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 408,112 British individuals.
The effect
Each copy of the C allele shifted the measure 0.021 higher (95% confidence interval 0.014-0.027); p = 3 × 10−10.
How common The C allele had a frequency of about 13% in the people studied.
Where it sits Chromosome 18, band 18q21.1 — between genes, 1.3 kb from PSTPIP2.
What each result means
C/C
Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Platelet count compared to the general population.
C/G
Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Platelet count.
G/G
Published research associates this genotype with typical/baseline likelihood of Platelet count — no copies of the reported risk allele.
Source
The Polygenic and Monogenic Basis of Blood Traits and Diseases
Vuckovic D,
Bao EL,
Akbari P,
Lareau CA,
Mousas A,
Jiang T,
Chen MH,
Raffield LM,
Tardaguila M,
Huffman JE,
Ritchie SC,
Megy K
and 100 more — show all
Ponstingl H,
Penkett CJ,
Albers PK,
Wigdor EM,
Sakaue S,
Moscati A,
Manansala R,
Lo KS,
Qian H,
Akiyama M,
Bartz TM,
Ben-Shlomo Y,
Beswick A,
Bork-Jensen J,
Bottinger EP,
Brody JA,
van Rooij FJA,
Chitrala KN,
Wilson PWF,
Choquet H,
Danesh J,
Di Angelantonio E,
Dimou N,
Ding J,
Elliott P,
Esko T,
Evans MK,
Felix SB,
Floyd JS,
Broer L,
Grarup N,
Guo MH,
Guo Q,
Greinacher A,
Haessler J,
Hansen T,
Howson JMM,
Huang W,
Jorgenson E,
Kacprowski T,
Kähönen M,
Kamatani Y,
Kanai M,
Karthikeyan S,
Koskeridis F,
Lange LA,
Lehtimäki T,
Linneberg A,
Liu Y,
Lyytikäinen LP,
Manichaikul A,
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Mohlke KL,
Mononen N,
Murakami Y,
Nadkarni GN,
Nikus K,
Pankratz N,
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Preuss M,
Psaty BM,
Raitakari OT,
Rich SS,
Rodriguez BAT,
Rosen JD,
Rotter JI,
Schubert P,
Spracklen CN,
Surendran P,
Tang H,
Tardif JC,
Ghanbari M,
Völker U,
Völzke H,
Watkins NA,
Weiss S,
Cai N,
Kundu K,
Watt SB,
Walter K,
Zonderman AB,
Cho K,
Li Y,
Loos RJF,
Knight JC,
Georges M,
Stegle O,
Evangelou E,
Okada Y,
Roberts DJ,
Inouye M,
Johnson AD,
Auer PL,
Astle WJ,
Reiner AP,
Butterworth AS,
Ouwehand WH,
Lettre G,
Sankaran VG,
Soranzo N
Cell · 2020 · PMID 32888494 · open access
Questions about rs57259994
What is rs57259994?
rs57259994 is a single position in the genome, in or near the PSTPIP2 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.
Does having rs57259994 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 rs57259994 come from?
GWAS Catalog, Cell 2020, PMID:32888494. 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 (rs57259994). MyGeneLog™. https://www.mygenelog.com/variants/rs57259994
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