Rs1049550

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Orientationminus
Geno Mag Summary
(C;C) normal
(C;T) 0.62x reduced risk for sarcoidosis
(T;T) 0.62x reduced risk for sarcoidosis
ReferenceGRCh37 37.1/131
Chromosome10
Position81926702
GeneANXA11
is asnp
is mentioned by
dbSNPrs1049550
PheGenIrs1049550
nextbiors1049550
hapmaprs1049550
1000 genomesrs1049550
hgdprs1049550
ensemblrs1049550
gopubmedrs1049550
geneviewrs1049550
scholarrs1049550
googlers1049550
pharmgkbrs1049550
gwascentralrs1049550
openSNPrs1049550
23andMers1049550
23andMe allrs1049550
SNP Nexus

SNPshotrs1049550
SNPdbers1049550
MSV3drs1049550
GMAF0.4247
Max Magnitude
? (C;C) (C;T) (T;T) 28
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

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 21239504] Novel Chemosensitive Single-Nucleotide Polymorphism Markers to Targeted Regimens in Metastatic Colorectal Cancer


[PMID 17708757OA-icon.png] Genome bioinformatic analysis of nonsynonymous SNPs.


[PMID 20205905OA-icon.png] Association of repeatedly measured intermediate risk factors for complex diseases with high dimensional SNP data.


GET Evidence
ANXA11-R230C
aa_change Arg230Cys
aa_change_short R230C
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.340554
summary



[PMID 23151485OA-icon.png] Association of ANXA11 genetic variation with sarcoidosis in African Americans and European Americans


[PMID 23152861OA-icon.png] IL12RB2 Gene Is Associated with the Age of Type 1 Diabetes Onset in Croatian Family Trios