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rs28493229

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0
Make rs28493229(C;C)
Make rs28493229(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position40718299
GeneADCK4, ITPKC
is asnp
is mentioned by
dbSNPrs28493229
ebirs28493229
HLIrs28493229
Exacrs28493229
Varsomers28493229
Maprs28493229
PheGenIrs28493229
hapmaprs28493229
1000 genomesrs28493229
hgdprs28493229
ensemblrs28493229
gopubmedrs28493229
geneviewrs28493229
scholarrs28493229
googlers28493229
pharmgkbrs28493229
gwascentralrs28493229
openSNPrs28493229
23andMers28493229
23andMe allrs28493229
SNP Nexus

SNPshotrs28493229
SNPdbers28493229
MSV3drs28493229
GWAS Ctlgrs28493229
GMAF0.09504
Max Magnitude0
OMIM606476
DescINOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE C; ITPKC
Variant
Relatedalso


[PMID 20045869] ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children

OMIM606476
Desc
Variant0001
Relatedalso


[PMID 22081228] Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease

[PMID 18084290OA-icon.png] ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.

[PMID 20805785] Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation.

[PMID 21987091] ITPKC and CASP3 polymorphisms and risks for IVIG unresponsiveness and coronary artery lesion formation in Kawasaki disease.

[PMID 22361738] Single-nucleotide Polymorphism rs2290692 in the 3'UTR of ITPKC Associated With Susceptibility to Kawasaki Disease in a Han Chinese Population.

[PMID 22484354OA-icon.png] Calcineurin Inhibitor Treatment of Intravenous Immunoglobulin-Resistant Kawasaki Disease.

[PMID 22610085] Genetic polymorphisms in the ITPKC gene and cervical squamous cell carcinoma risk.


[PMID 23456091] Combined analysis of genome-wide-linked susceptibility loci to Kawasaki disease in Han Chinese


[PMID 22498790] ITPKC susceptibility in Kawasaki syndrome as a sensitizing factor for autoimmunity and coronary arterial wall relaxation induced by thimerosal's effects on calcium signaling via IP3.


[PMID 23065250] A functional polymorphism, rs28493229, in ITPKC and risk of Kawasaki disease: an integrated meta-analysis.