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Mean corpuscular hemoglobin

SLC4A2 · rs2303931

Where this position leads

What the study found

Who was studied 630,125 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals.

The effect The reported allele is A; the catalogue records no effect size ; p = 9 × 10⁻¹¹.

How common The A allele had a frequency of about 28% in the people studied.

Where it sits Chromosome 7, band 7q36.1 — in an intron of SLC4A2.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Mean corpuscular hemoglobin compared to the general population.

A/C Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mean corpuscular hemoglobin.

C/C Published research associates this genotype with typical/baseline likelihood of Mean corpuscular hemoglobin — 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

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Cell · 2020 · PMID 32888493

Questions about rs2303931

What is rs2303931?

rs2303931 is a single position in the genome, in or near the SLC4A2 gene. Published research associates it with mean corpuscular hemoglobin. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2303931 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 rs2303931 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 rs2303931 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 hemoglobin (rs2303931). MyGeneLog™. https://www.mygenelog.com/variants/rs2303931

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