rs11777194
This variant is located in the OPLAH 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.
level of 5-oxoprolinase in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.43
p 3.0e-16
N 47,745
Large GWAS
European
▶ClinVar annotation
Conflicting Classifications
4 submitters3 publications5-Oxoprolinase deficiency; not provided
View on ClinVar →About OPLAH
The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]
View all OPLAH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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