rs61735836

This variant is located in the FTCD gene.

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GWAS Catalog Trait Associations (2)

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

formimidoyltransferase-cyclodeaminase measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 0.67

p 3.0e-56

N 10,708

Large GWAS

European

serum creatinine amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele T

OR 0.03

p 1.0e-11

N 153,950

Large GWAS

East Asian

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

Glutamate formiminotransferase deficiency; not provided; FTCD-related disorder

View on ClinVar →

About FTCD

The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]