rs12525353

This is a intron variant variant in the MTHFD1L gene.

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Research that mentions this SNP (1)

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The impact of newly identified loci on coronary heart disease, stroke and total mortality in the MORGAM prospective cohorts
AssociationN=33,282Juha Karvanen et al.(2009)· Genetic Epidemiology

Prospective cohort study of 33,282 individuals from the MORGAM Project investigating SNPs from recent GWAS in relation to incident coronary heart disease (CHD), stroke, and total mortality. SNP rs1333049 (9p21.3) was associated with both CHD (HR=1.20, 95% CI 1.08-1.34) and stroke, rs11670734 (19q12) with total mortality and stroke, and several SNPs associated with lipid levels and blood pressure.

Traits studied:Blood pressureCoronary heart diseaseHDL cholesterolMyocardial infarctionNon-HDL cholesterolStrokeTotal mortality
PubMedDOIMetascience Observatory

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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