rs7552188

This variant is located in the DPYD gene.

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GWAS Catalog Trait Associations (1)

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

gastroesophageal reflux disease

An J et al. “Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases.” Nature Communications 10(1):4219 (2019)

Allele T

OR 1.04

p 2.0e-10

N 385,276

Large GWAS

European, NR

About DPYD

The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

View all DPYD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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