|| 1.6x increased risk of sarcoidosis
|| 0.62x reduced risk for sarcoidosis
|?|| (C;C) (C;T) (T;T) ||28|
, also known as R230C, is a SNP in the annexin A11 ANXA11
[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
Note that several ANXA11 SNPs are all tightly linked: rs1953600, rs2573346, rs2784773 and rs1049550.
|Desc||SARCOIDOSIS, SUSCEPTIBILITY TO, 3; SS3|
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