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Mean corpuscular volume

PLCL2 · rs1992383

Where this position leads

What the study found

Who was studied 544,127 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0529 SD unit lower (95% confidence interval 0.046-0.059); p = 7 × 10⁻⁵⁷.

How common The C allele had a frequency of about 8% in the people studied.

Where it sits Chromosome 3, band 3p24.3 — in an intron of PLCL2.

What each result means

C/C 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.

C/G One copy of the version the research linked to Mean corpuscular volume. That is a smaller link than two copies.

G/G No copy of the version the research linked to Mean corpuscular 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 rs1992383

What is rs1992383?

rs1992383 is a single position in the genome, in or near the PLCL2 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 rs1992383 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 rs1992383 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 rs1992383 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 corpuscular volume (rs1992383). MyGeneLog™. https://www.mygenelog.com/variants/rs1992383

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