rs7257

This is a protein-altering variant in the MTHFS gene.

▶

GWAS Catalog Trait Associations (1)

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

eosinophil count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele A

OR —

p 4.0e-64

N 583,850

Large GWAS

multi-ancestry

Höglund J et al. “Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count.” Frontiers in Immunology 13:862255 (2022)

Allele A

OR 0.03

p 2.0e-14

N 365,954

Large GWAS

European

About MTHFS

The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

View all MTHFS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…