rs139220692

This is a intron variant variant in the MTHFD2L gene.

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GWAS Catalog Trait Associations (1)

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

alpha-fetoprotein level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.36

p 1.0e-12

N 47,745

Large GWAS

European

About MTHFD2L

Predicted to enable methenyltetrahydrofolate cyclohydrolase activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

View all MTHFD2L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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