rs12825748
This is a intron variant variant in the MSRB3 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.
forced expiratory volume
Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)
Allele C
OR 10.28
p 9.0e-25
N 588,452
Large GWAS
multi-ancestry
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele C
OR 0.02
p 6.0e-15
N 321,047
Large GWAS
European
vital capacity
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele C
OR 0.02
p 2.0e-14
N 321,047
Large GWAS
European
peak expiratory flow
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele C
OR 0.02
p 7.0e-9
N 321,047
Large GWAS
European
About MSRB3
The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]
View all MSRB3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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