rs61732533
This variant is located in the OPLAH gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
atrial fibrillation
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.09
p 3.0e-11
N 437,748
Major Consortium StudyLarge GWAS
European
diastolic blood pressure
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.21
p 4.0e-8
N 810,865
Meta-analysisLarge GWAS
European
heart rate
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.06
p 1.0e-25
N 425,720
Major Consortium StudyLarge GWAS
European
▶ClinVar annotation
Benign★★★☆
3 submitters2 publications5-Oxoprolinase deficiency; OPLAH-related disorder; 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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