rs1049550

This is a variant in the ANXA11 gene that changes a arginine to an glycine.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

sarcoidosis

Yuan S et al. “GWAS identifies genetic loci, lifestyle factors and circulating biomarkers that are risk factors for sarcoidosis.” Nature Communications 16(1):2481 (2025)

Allele A

OR 0.78

p 3.0e-49

N 1,374,560

Large GWAS

European

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter3 publications

View on ClinVar →

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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