rs61735841
This variant is located in the FTCD 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.
Mastocytosis
Nedoszytko B et al. “Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.” International Journal of Molecular Sciences 21(15) (2020)
Allele A
OR —
β 0.026
p 1.0e-9
N 5,840
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
3 submitters2 publicationsnot specified; Glutamate formiminotransferase deficiency; not provided
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]
View all FTCD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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