rs2070475

This variant is located in the UPB1 gene.

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GWAS Catalog Trait Associations (1)

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

acne

Mitchell BL et al. “Genome-wide association meta-analysis identifies 29 new acne susceptibility loci.” Nature Communications 13(1):702 (2022)

Allele T

OR 1.11

p 5.0e-10

N 615,396

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; Deficiency of beta-ureidopropionase

View on ClinVar →

About UPB1

This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]

View all UPB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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