rs141494605

This is a synonymous variant in the HBM gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (5)

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

mean corpuscular hemoglobin

Xiang R et al. “Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction.” Nature Communications 16(1):4260 (2025)
Allele C
OR 0.36
p 4.0e-93
N 406,516
Large GWAS
European

erythrocyte volume

Xiang R et al. “Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction.” Nature Communications 16(1):4260 (2025)
Allele C
OR 0.30
p 3.0e-64
N 407,156
Large GWAS
European

hemoglobin subunit zeta measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.32
p 4.0e-22
N 47,745
Large GWAS
European

erythrocyte count

Xiang R et al. “Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction.” Nature Communications 16(1):4260 (2025)
Allele C
OR 0.11
p 3.0e-10
N 408,068
Large GWAS
European

About HBM

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]

View all HBM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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