rs4869977
This is a regulatory region variant variant in the MTHFD1L gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
renal carcinoma
Purdue MP et al. “Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.” Nature Genetics 56(5):809-818 (2024)
Allele C
OR 1.11
p 2.0e-12
N 864,690
Large GWAS
multi-ancestry
About MTHFD1L
The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
View all MTHFD1L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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