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rs1049550, also known as R230C, is a SNP in the annexin A11 ANXA11 gene.
[PMID 18690218] 499 German individuals with sarcoidosis and 490 controls; Validation in an independent sample 1,649 cases, 1,832 controls. rs2789679: P = 3.0 x 10(-13), rs7091565: P = 1.0 x 10(-5)rs1049550, T > C, R230C was found to be strongly associated with sarcoidosis.
[PMID 19165924] rs2789679 P = 3.0 x 10(-13), rs7091565: P = 1.0 x 10(-5), allele-based test). Extensive fine mapping located the association signal to a region between exon 5 and exon 14 of ANXA11. A common nonsynonymous SNP (rs1049550, T > C, R230C) was found to be strongly associated with sarcoidosis
[PMID 21239504] Novel Chemosensitive Single-Nucleotide Polymorphism Markers to Targeted Regimens in Metastatic Colorectal Cancer
[PMID 17708757] Genome bioinformatic analysis of nonsynonymous SNPs.
[PMID 20205905] Association of repeatedly measured intermediate risk factors for complex diseases with high dimensional SNP data.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23151485] Association of ANXA11 genetic variation with sarcoidosis in African Americans and European Americans
[PMID 23152861] IL12RB2 Gene Is Associated with the Age of Type 1 Diabetes Onset in Croatian Family Trios