rs4404254
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs4404254(C;C) |
| Make rs4404254(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 203960563 |
| Gene | ICOS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4404254 |
| dbSNP (classic) | rs4404254 |
| ClinGen | rs4404254 |
| ebi | rs4404254 |
| HLI | rs4404254 |
| Exac | rs4404254 |
| Gnomad | rs4404254 |
| Varsome | rs4404254 |
| LitVar | rs4404254 |
| Map | rs4404254 |
| PheGenI | rs4404254 |
| Biobank | rs4404254 |
| 1000 genomes | rs4404254 |
| hgdp | rs4404254 |
| ensembl | rs4404254 |
| geneview | rs4404254 |
| scholar | rs4404254 |
| rs4404254 | |
| pharmgkb | rs4404254 |
| gwascentral | rs4404254 |
| openSNP | rs4404254 |
| 23andMe | rs4404254 |
| SNPshot | rs4404254 |
| SNPdbe | rs4404254 |
| MSV3d | rs4404254 |
| GWAS Ctlg | rs4404254 |
| GMAF | 0.2635 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 22977635
] Association study between polymorphisms of CD28, CTLA4 and ICOS and non-segmental vitiligo in a Korean population
[PMID 19202444] Association of genetic variation in inducible costimulator gene with outcome of kidney transplantation.
[PMID 25497975] Five functional polymorphisms of B7/CD28 co-signaling molecules alter susceptibility to colorectal cancer
| ClinVar | |
|---|---|
| Risk | rs4404254(C;C) |
| Alt | rs4404254(C;C) |
| Reference | Rs4404254(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | Common Variable Immune Deficiency |
| Variation | info |
| Gene | ICOS |
| CLNDBN | Common Variable Immune Deficiency, Recessive |
| Reversed | 0 |
| HGVS | NC_000002.11:g.204825286T>C |
| CLNSRC | |
| CLNACC | RCV000264417.1, |
