rs3923564
This is a downstream gene variant variant in the SFTPD 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.
chronic obstructive pulmonary disease, surfactant protein D measurement
Kim DK et al. “Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.” American Journal of Respiratory and Critical Care Medicine 186(12):1238-47 (2012)
Allele G
OR —
p 2.0e-27
N 1,951
Large GWAS
European
About SFTPD
The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]
View all SFTPD 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…