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rs7091565

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal
(C;T) 1.26x risk of sarcoidosis
(T;T) 1.26x risk of sarcoidosis
ReferenceGRCh38 38.1/142
Chromosome10
Position80153805
GeneANXA11
is asnp
is mentioned by
dbSNPrs7091565
dbSNP (classic)rs7091565
ClinGenrs7091565
ebirs7091565
HLIrs7091565
Exacrs7091565
Gnomadrs7091565
Varsomers7091565
LitVarrs7091565
Maprs7091565
PheGenIrs7091565
Biobankrs7091565
1000 genomesrs7091565
hgdprs7091565
ensemblrs7091565
geneviewrs7091565
scholarrs7091565
googlers7091565
pharmgkbrs7091565
gwascentralrs7091565
openSNPrs7091565
23andMers7091565
SNPshotrs7091565
SNPdbers7091565
MSV3drs7091565
GWAS Ctlgrs7091565
GMAF0.4541
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[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