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Red blood cell haemoglobin equivalent

LUC7L · rs530159671

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 38,200 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.809 SD units lower (95% confidence interval 0.65-0.97); p = 4 × 10−23.

How common The A allele had a frequency of about 0% in the people studied.

Where it sits Chromosome 16, band 16p13.3 — in an intron of LUC7L.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Red blood cell 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 Red blood cell haemoglobin equivalent.
G/G Published research associates this genotype with typical/baseline likelihood of Red blood cell 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 rs530159671

What is rs530159671?

rs530159671 is a single position in the genome, in or near the LUC7L gene. Published research associates it with red blood cell 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 rs530159671 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 rs530159671 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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Red blood cell haemoglobin equivalent (rs530159671). MyGeneLog™. https://www.mygenelog.com/variants/rs530159671

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