rs11549407

This is a variant in the HBB gene that changes a glutamine to an glutamate.

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GWAS Catalog Trait Associations (14)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

erythrocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 3.19
p 9.9e-324
N 405,366
Major Consortium StudyLarge GWAS
European

erythrocyte volume

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 5.94
p 9.9e-324
N 407,294
Major Consortium StudyLarge GWAS
European

mean corpuscular hemoglobin concentration

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 4.14
p 9.9e-324
N 583,889
Major Consortium StudyLarge GWAS
multi-ancestry
Hu Y et al. “Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.” American Journal of Human Genetics 108(5):874-893 (2021)
Allele G
OR 1.78
p 1.0e-23
N 52,648
Large GWAS
multi-ancestry

familial hemolytic anemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR —
β 2.145
p 6.0e-224
N 449,984
Major Consortium StudyLarge GWAS
European

inherited hemoglobinopathy

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR —
β 2.320
p 9.0e-210
N 450,479
Major Consortium StudyLarge GWAS
European

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele A
OR 0.43
p 7.0e-28
N 1,320,016
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.54
p 5.0e-13
N 397,478
Major Consortium StudyLarge GWAS
European

non-high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele A
OR 0.39
p 7.0e-19
N 1,320,016
Large GWAS
European

Hypercholesterolemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 1.04
p 4.0e-13
N 315,668
Major Consortium StudyLarge GWAS
European

anemia (phenotype)

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 2.93
p 1.0e-15
N 55,252
Major Consortium StudyLarge GWAS
Hispanic or Latin American

blood protein amount

Orrù V et al. “Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.” Nature Genetics 52(10):1036-1045 (2020)
Allele A
OR 0.44
p 2.0e-12
N 2,872
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
40 submitters39 publications

Beta zero thalassemia; not provided; beta Thalassemia; Hb SS disease; alpha Thalassemia; Heinz body anemia; Beta-thalassemia HBB/LCRB; Inborn genetic diseases; HBB-related disorder; 8 conditions; Malaria, susceptibility to

View on ClinVar →
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Research that mentions this SNP (1)

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β‐thalassemia alleles and unstable hemoglobin types among russian pediatric patients
AssociationN=387Cürük MA et al.(1994)· American Journal of Hematology

A molecular characterization study of beta thalassemia mutations in 387 heterozygous carriers from Chennai, India, identified 30 different HBB mutations with IVS 1-5 (G-C) being the most prevalent (70.8%, rs33915217). Five rare mutations were reported for the first time in India (IVS II-1 G>T, CD 37 TGG-TGA, IVS II 781 C-G, CD114 CTG-CCG, Poly A A-G), and one novel mutation (HBB.c319DelC) was detected, supporting the development of prenatal diagnostic approaches for beta thalassemia.

Traits studied:Beta thalassemiaBeta thalassemia heterozygousBeta thalassemia trait
PubMedDOIMetascience Observatory

About HBB

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]

View all HBB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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