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rs2789679

From SNPedia

Orientationplus
Stabilizedplus
Make rs2789679(A;A)
Make rs2789679(A;T)
Make rs2789679(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position80148128
GeneANXA11
is asnp
is mentioned by
dbSNPrs2789679
ebirs2789679
HLIrs2789679
Exacrs2789679
Varsomers2789679
Maprs2789679
PheGenIrs2789679
hapmaprs2789679
1000 genomesrs2789679
hgdprs2789679
ensemblrs2789679
gopubmedrs2789679
geneviewrs2789679
scholarrs2789679
googlers2789679
pharmgkbrs2789679
gwascentralrs2789679
openSNPrs2789679
23andMers2789679
23andMe allrs2789679
SNP Nexus

SNPshotrs2789679
SNPdbers2789679
MSV3drs2789679
GWAS Ctlgrs2789679
GMAF0.4141
Max Magnitude
? (A;A) (A;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

Note that several ANXA11 SNPs are all tightly linked: rs1953600, rs2573346, rs2784773 and rs1049550.

OMIM612388
DescSARCOIDOSIS, SUSCEPTIBILITY TO, 3; SS3
Variant
Relatedalso
OMIM602572
DescANNEXIN A11; ANXA11
Variant
Relatedalso


[PMID 27537711] The Association between ANXA11 Gene Polymorphisms and Sarcoidosis: a Meta-Analysis and systematic review.