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Reticulocyte haemoglobin equivalent

ENTPD4 · rs6983320

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 39,127 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0618 SD units higher (95% confidence interval 0.046-0.077); p = 3 × 10−15.

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

Where it sits Chromosome 8, band 8p21.3 — in a regulatory region of ENTPD4.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Reticulocyte haemoglobin equivalent compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Reticulocyte haemoglobin equivalent.
G/G Published research associates this genotype with typical/baseline likelihood of Reticulocyte haemoglobin equivalent — no copies of the reported risk allele.
Source
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology
Akbari P, Vuckovic D, Stefanucci L, Jiang T, Kundu K, Kreuzhuber R, Bao EL, Collins JH, Downes K, Grassi L, Guerrero JA, Kaptoge S
and 20 more — show all
Knight JC, Meacham S, Sambrook J, Seyres D, Stegle O, Verboon JM, Walter K, Watkins NA, Danesh J, Roberts DJ, Di Angelantonio E, Sankaran VG, Frontini M, Burgess S, Kuijpers T, Peters JE, Butterworth AS, Ouwehand WH, Soranzo N, Astle WJ
Nature communications · 2023 · PMID 37596262 · open access

Questions about rs6983320

What is rs6983320?

rs6983320 is a single position in the genome, in or near the ENTPD4 gene. Published research associates it with reticulocyte haemoglobin equivalent. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs6983320 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 rs6983320 come from?

GWAS Catalog, Nature communications 2023, PMID:37596262. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Reticulocyte haemoglobin equivalent (rs6983320). MyGeneLog™. https://www.mygenelog.com/variants/rs6983320

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