rs7218675
This variant is located in the TSEN54 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.
forced expiratory volume
Wain LV et al. “Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.” The Lancet. Respiratory Medicine 3(10):769-81 (2015)
Allele A
OR 1.18
p 1.0e-8
N 14,649
Major Consortium StudyLarge GWAS
European
▶ClinVar annotation
Benign★★★☆
7 submitters1 publicationnot specified; Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 5; not provided; Pontocerebellar hypoplasia type 2A
View on ClinVar →About TSEN54
This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]
View all TSEN54 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…