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High light scatter reticulocyte count

SEMA4D · rs11526468

Where this position leads

Condition: Blood Cell Counts

rs11526468 Condition: Blood Cell Counts Blood Cell Counts Condition rs11526468 rs11526468 SEMA4D

What the study found

Who was studied 170,761 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0242 lower (95% confidence interval 0.016-0.032); p = 7 × 10−10.

How common The T allele had a frequency of about 30% in the people studied.

Where it sits Chromosome 9, band 9q22.2 — a missense change in SEMA4D.

What ClinVar records

Classification Benign for SEMA4D-related disorder; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2019-10-21. ClinVar record 3060636 NM_001371194.2(SEMA4D):c.979G>A (p.Ala327Thr)

What this is ClinVar's aggregate record for this position (as of its 2026-09-24 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of High light scatter reticulocyte count — no copies of the reported risk allele.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with High light scatter reticulocyte count.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of High light scatter reticulocyte count compared to the general population.
Source
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, Mead D, Bouman H, Riveros-Mckay F, Kostadima MA, Lambourne JJ, Sivapalaratnam S
and 62 more — show all
Downes K, Kundu K, Bomba L, Berentsen K, Bradley JR, Daugherty LC, Delaneau O, Freson K, Garner SF, Grassi L, Guerrero J, Haimel M, Janssen-Megens EM, Kaan A, Kamat M, Kim B, Mandoli A, Marchini J, Martens JHA, Meacham S, Megy K, O'Connell J, Petersen R, Sharifi N, Sheard SM, Staley JR, Tuna S, van der Ent M, Walter K, Wang SY, Wheeler E, Wilder SP, Iotchkova V, Moore C, Sambrook J, Stunnenberg HG, Di Angelantonio E, Kaptoge S, Kuijpers TW, Carrillo-de-Santa-Pau E, Juan D, Rico D, Valencia A, Chen L, Ge B, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yang Y, Guigo R, Beck S, Paul DS, Pastinen T, Bujold D, Bourque G, Frontini M, Danesh J, Roberts DJ, Ouwehand WH, Butterworth AS, Soranzo N
Cell · 2016 · PMID 27863252 · open access

Questions about rs11526468

What is rs11526468?

rs11526468 is a single position in the genome, in or near the SEMA4D gene. Published research associates it with high light scatter reticulocyte count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs11526468 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 rs11526468 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 rs11526468 come from?

GWAS Catalog, Cell 2016, PMID:27863252. 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.

High light scatter reticulocyte count (rs11526468). MyGeneLog™. https://www.mygenelog.com/variants/rs11526468

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