rs7091565
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | normal | |
(C;T) | 1.26x risk of sarcoidosis | |
(T;T) | 1.26x risk of sarcoidosis |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 80153805 |
Gene | ANXA11 |
is a | snp |
is | mentioned by |
dbSNP | rs7091565 |
dbSNP (classic) | rs7091565 |
ClinGen | rs7091565 |
ebi | rs7091565 |
HLI | rs7091565 |
Exac | rs7091565 |
Gnomad | rs7091565 |
Varsome | rs7091565 |
LitVar | rs7091565 |
Map | rs7091565 |
PheGenI | rs7091565 |
Biobank | rs7091565 |
1000 genomes | rs7091565 |
hgdp | rs7091565 |
ensembl | rs7091565 |
geneview | rs7091565 |
scholar | rs7091565 |
rs7091565 | |
pharmgkb | rs7091565 |
gwascentral | rs7091565 |
openSNP | rs7091565 |
23andMe | rs7091565 |
SNPshot | rs7091565 |
SNPdbe | rs7091565 |
MSV3d | rs7091565 |
GWAS Ctlg | rs7091565 |
GMAF | 0.4541 |
Max Magnitude | 0 |
? | (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