Standard
Hematocrit
PKDCC · rs2424
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 562,259 European ancestry individuals.
The effect
Each copy of the A allele shifted the measure 0.017 SD unit higher (95% confidence interval 0.013-0.021); p = 1 × 10−13.
How common The A allele had a frequency of about 20% in the people studied.
Where it sits Chromosome 2, band 2p21 — in the 3′ untranslated region of PKDCC.
What each result means
A/A
Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hematocrit compared to the general population.
A/T
Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hematocrit.
T/T
Published research associates this genotype with typical/baseline likelihood of Hematocrit — no copies of the reported risk allele.
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
Cell · 2020 · PMID 32888493
Questions about rs2424
What is rs2424?
rs2424 is a single position in the genome, in or near the PKDCC gene. Published research associates it with hematocrit. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs2424 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 rs2424 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.
Hematocrit (rs2424). MyGeneLog™. https://www.mygenelog.com/variants/rs2424
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