rs387907018

This is a variant in the TMPRSS6 gene that changes a glutamate to an lysine.

▶

GWAS Catalog Trait Associations (2)

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

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 C

OR 0.06

p 2.0e-36

N 581,256

Major Consortium StudyLarge GWAS

multi-ancestry

HbA1c measurement

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 C

OR 0.05

p 3.0e-12

N 49,152

Major Consortium StudyLarge GWAS

Hispanic or Latin American

▶

ClinVar annotation

Pathogenic

1 submitter1 publication

Iron-refractory iron deficiency anemia (IRIDA)

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]