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Mean corpuscular hemoglobin

HBS1L · rs7776054

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.

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−80, with 44 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 24,167 European ancestry individuals; replicated in 9,456 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.01 pg lower (95% confidence interval 0.009-0.0111); p = 7 × 10−69.

Where it sits Chromosome 6, band 6q23.3 — inside HBS1L.

How common each version is

AG
Korean KRGDB
A 68.5% · G 31.5%
Korean Korea4K
A 68.0% · G 32.0%
Korean Korea1K
A 67.9% · G 32.1%
Japanese ToMMo
A 65.8% · G 34.2%
Vietnamese
A 76.6% · G 23.4%
World gnomAD
A 75.9% · G 24.1%
World 1000 Genomes
A 78.9% · G 21.1%
World TOPMed
A 77.0% · G 22.9%

By ancestry gnomAD

East Asian
A 74.4% · G 25.6%
European (non-Finnish)
A 73.9% · G 26.1%
African / African American
A 78.3% · G 21.7%
South Asian
A 88.9% · G 11.1%
Admixed American (Latino)
A 82.0% · G 18.0%
Middle Eastern
A 79.2% · G 20.8%
Finnish
A 65.3% · G 34.6%
Ashkenazi Jewish
A 76.7% · G 23.3%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A No copy of the version the research linked to Mean corpuscular hemoglobin. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Mean corpuscular hemoglobin. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Mean corpuscular hemoglobin. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, Nalls MA, Chen MH, Kottgen A, Glazer NL, Dehghan A, Kuhnel B, Aspelund T
and 50 more — show all
Yang Q, Tanaka T, Jaffe A, Bis JC, Verwoert GC, Teumer A, Fox CS, Guralnik JM, Ehret GB, Rice K, Felix JF, Rendon A, Eiriksdottir G, Levy D, Patel KV, Boerwinkle E, Rotter JI, Hofman A, Sambrook JG, Hernandez DG, Zheng G, Bandinelli S, Singleton AB, Coresh J, Lumley T, Uitterlinden AG, Vangils JM, Launer LJ, Cupples LA, Oostra BA, Zwaginga JJ, Ouwehand WH, Thein SL, Meisinger C, Deloukas P, Nauck M, Spector TD, Gieger C, Gudnason V, van Duijn CM, Psaty BM, Ferrucci L, Chakravarti A, Greinacher A, O'Donnell CJ, Witteman JC, Furth S, Cushman M, Harris TB, Lin JP
Nature genetics · 2009 · PMID 19862010 · open access

In the news

2026-09-30 · Guo CJ, et al. Nature 2026, PMID:42816612

Human genetics implicates a BACH2-NRF2 axis in fetal haemoglobin activation

Guo CJ, et al. (Nature, 2026) is newly in the GWAS Catalog, with 213 associations across 4 traits ("Fetal hemoglobin levels"; "Inverse-normal transformed fetal hemoglobin percentage"; "Inverse-normal transformed fetal hemoglobin to adult beta-globin gene-expression ratio"). Studied in 28,279 individuals. 35 of the study's 175 positions are already on this site — 26 on the Blood Cell Counts page; 2 on the Cholesterol (LDL, HDL and Total) page; 2 on the Celiac Disease page — including rs9402686 (HBS1L), rs13019832 (BCL11A), rs7776054 (HBS1L). This item was assembled by code from the catalogue's records; the paper is linked for the rest. PMID:42816612.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Mean corpuscular hemoglobin (rs7776054). MyGeneLog™. https://www.mygenelog.com/variants/rs7776054

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