rs113235453
This variant is located in the NUBPL 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.
Otitis media
Jiang L et al. “Genome-wide association analyses of common infections in a large practice-based biobank.” Bmc Genomics 23(1):672 (2022)
Allele G
OR 1.50
p 3.0e-8
N 14,604
Large GWAS
European
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout NUBPL
This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
View all NUBPL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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