rs28493229
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 |
| Make rs28493229(C;C) |
| Make rs28493229(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 40718299 |
| Gene | COQ8B, ITPKC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28493229 |
| dbSNP (classic) | rs28493229 |
| ClinGen | rs28493229 |
| ebi | rs28493229 |
| HLI | rs28493229 |
| Exac | rs28493229 |
| Gnomad | rs28493229 |
| Varsome | rs28493229 |
| LitVar | rs28493229 |
| Map | rs28493229 |
| PheGenI | rs28493229 |
| Biobank | rs28493229 |
| 1000 genomes | rs28493229 |
| hgdp | rs28493229 |
| ensembl | rs28493229 |
| geneview | rs28493229 |
| scholar | rs28493229 |
| rs28493229 | |
| pharmgkb | rs28493229 |
| gwascentral | rs28493229 |
| openSNP | rs28493229 |
| 23andMe | rs28493229 |
| SNPshot | rs28493229 |
| SNPdbe | rs28493229 |
| MSV3d | rs28493229 |
| GWAS Ctlg | rs28493229 |
| GMAF | 0.09504 |
| Max Magnitude | 0 |
[PMID 20045869] ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children
[PMID 22081228] Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease
[PMID 18084290
] 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 22484354] 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.
| ClinVar | |
|---|---|
| Risk | rs28493229(C;C) |
| Alt | rs28493229(C;C) |
| Reference | Rs28493229(G;G) |
| Significance | Other |
| Disease | Kawasaki disease |
| Variation | info |
| Gene | COQ8B ITPKC |
| CLNDBN | Kawasaki disease, susceptibility to |
| Reversed | 0 |
| HGVS | NC_000019.9:g.41224204G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004498.2, |
