rs2235321
This variant is located in the TMPRSS6 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hemoglobin measurement
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.05
p —
N 928,679
Large GWAS
multi-ancestry
HbA1c measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 1.0e-66
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry
bilirubin measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 5.0e-20
N 354,368
Major Consortium StudyLarge GWAS
multi-ancestry
serum iron amount
Yang W et al. “Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans.” Communications Biology 5(1):405 (2022)
Allele A
OR 0.32
p 3.0e-9
N 687
Small GWAS
East Asian
▶ClinVar annotation
Benign★★★☆
6 submitters2 publicationsnot specified; Microcytic anemia; Iron-refractory iron deficiency anemia; not provided
View on ClinVar →About TMPRSS6
The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
View all TMPRSS6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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