rs147828466

This variant is located in the UROC1 gene.

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GWAS Catalog Trait Associations (1)

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

anorectal malformation

van de Putte R et al. “Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.” Plos One 14(5):e0217477 (2019)

Allele A

OR —

p 6.0e-10

N 2,428

Large GWAS

European

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ClinVar annotation

Uncertain Significance★★★☆

4 submitters2 publications

not specified; Urocanate hydratase deficiency; not provided

View on ClinVar →

About UROC1

This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021]

View all UROC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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