rs137853120

This is a variant in the TMPRSS6 gene that changes a aspartate to an asparagine.

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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

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.84
p 3.0e-26
N 408,112
Large GWAS
European

Red cell distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.77
p 6.0e-22
N 408,112
Large GWAS
European

erythrocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.64
p 8.0e-22
N 408,112
Large GWAS
European

hemoglobin measurement

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.60
p 2.0e-14
N 408,112
Large GWAS
European

mean corpuscular hemoglobin concentration

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.47
p 5.0e-10
N 408,112
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
5 submitters3 publications

Iron-refractory iron deficiency anemia (IRIDA); Microcytic anemia; TMPRSS6-related disorder

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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