Standard
Mean corpuscular hemoglobin
NPRL3 · rs551864820
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 20,714 Amish, White ancestry individuals, 447 Asian ancestry individuals, 11,246 Black individuals, 13,834 Central American ancestry, Cuban ancestry, Dominican ancestry, Mexican ancestry, Puerto Rican ancestry, South American ancestry individuals.
The effect
Each copy of the A allele shifted the measure 3.48 lower (95% confidence interval 2.4-4.56); p = 2 × 10−10.
Where it sits Chromosome 16, band 16p13.3 — in an intron of NPRL3.
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/G
Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mean corpuscular hemoglobin.
G/G
Published research associates this genotype with typical/baseline likelihood of Mean corpuscular hemoglobin — no copies of the reported risk allele.
Source
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program
Hu Y,
Stilp AM,
McHugh CP,
Rao S,
Jain D,
Zheng X,
Lane J,
Méric de Bellefon S,
Raffield LM,
Chen MH,
Yanek LR,
Wheeler M
and 67 more — show all
Yao Y,
Ren C,
Broome J,
Moon JY,
de Vries PS,
Hobbs BD,
Sun Q,
Surendran P,
Brody JA,
Blackwell TW,
Choquet H,
Ryan K,
Duggirala R,
Heard-Costa N,
Wang Z,
Chami N,
Preuss MH,
Min N,
Ekunwe L,
Lange LA,
Cushman M,
Faraday N,
Curran JE,
Almasy L,
Kundu K,
Smith AV,
Gabriel S,
Rotter JI,
Fornage M,
Lloyd-Jones DM,
Vasan RS,
Smith NL,
North KE,
Boerwinkle E,
Becker LC,
Lewis JP,
Abecasis GR,
Hou L,
O'Connell JR,
Morrison AC,
Beaty TH,
Kaplan R,
Correa A,
Blangero J,
Jorgenson E,
Psaty BM,
Kooperberg C,
Walton RT,
Kleinstiver BP,
Tang H,
Loos RJF,
Soranzo N,
Butterworth AS,
Nickerson D,
Rich SS,
Mitchell BD,
Johnson AD,
Auer PL,
Li Y,
Mathias RA,
Lettre G,
Pankratz N,
Laurie CC,
Laurie CA,
Bauer DE,
Conomos MP,
Reiner AP
American journal of human genetics · 2021 · PMID 33887194
Questions about rs551864820
What is rs551864820?
rs551864820 is a single position in the genome, in or near the NPRL3 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.
Does having rs551864820 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 rs551864820 come from?
GWAS Catalog, American journal of human genetics 2021, PMID:33887194. 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 (rs551864820). MyGeneLog™. https://www.mygenelog.com/variants/rs551864820
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