rs6585424

This is a intron variant variant in the ANXA11 gene.

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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 1.0e-10

N 1,951

Large GWAS

European

About ANXA11

This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]

View all ANXA11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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