rs4774
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs4774(C;C) |
| Make rs4774(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 10906991 |
| Gene | CIITA, LOC105371080 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4774 |
| dbSNP (classic) | rs4774 |
| ClinGen | rs4774 |
| ebi | rs4774 |
| HLI | rs4774 |
| Exac | rs4774 |
| Gnomad | rs4774 |
| Varsome | rs4774 |
| LitVar | rs4774 |
| Map | rs4774 |
| PheGenI | rs4774 |
| Biobank | rs4774 |
| 1000 genomes | rs4774 |
| hgdp | rs4774 |
| ensembl | rs4774 |
| geneview | rs4774 |
| scholar | rs4774 |
| rs4774 | |
| pharmgkb | rs4774 |
| gwascentral | rs4774 |
| openSNP | rs4774 |
| 23andMe | rs4774 |
| SNPshot | rs4774 |
| SNPdbe | rs4774 |
| MSV3d | rs4774 |
| GWAS Ctlg | rs4774 |
| GMAF | 0.2622 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19317741] Autoimmune disease association signals in CIITA and KIAA0350 are not involved in celiac disease susceptibility
[PMID 22272574] Influence of MHCIITA rs3087456 and rs4774 polymorphisms in the susceptibility to cardiovascular disease of patients with rheumatoid arthritis
[PMID 22461888
] Interaction Analysis between HLA-DRB1 Shared Epitope Alleles and MHC Class II Transactivator CIITA Gene with Regard to Risk of Rheumatoid Arthritis
[PMID 17012290] Role of the MHC2TA gene in autoimmune diseases.
[PMID 17678724] Environment-gene interaction in multiple sclerosis: human herpesvirus 6 and MHC2TA.
[PMID 19221398] Chromosomal region 16p13: further evidence of increased predisposition to immune diseases.
[PMID 19659749] MHC2TA rs4774C and HHV-6A active replication in multiple sclerosis patients.
[PMID 20211854] CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.
[PMID 21962857] Herpesvirus active replication in multiple sclerosis a genetic control?
[PMID 23489895] CIITA rs4774 and rs6498122 polymorphisms are associated with oral lichen planus in Chinese people: a case-control study
[PMID 23777927] Both qualitative and quantitative genetic variation of MHC class II molecules may influence susceptibility to autoimmune diseases: the case of endemic pemphigus foliaceus.
[PMID 25992516] The CIITA genetic polymorphism rs4774*C in combination with the HLA-DRB1*15:01 allele as a putative susceptibility factor to multiple sclerosis in Brazilian females
| ClinVar | |
|---|---|
| Risk | rs4774(C;C) |
| Alt | rs4774(C;C) |
| Reference | Rs4774(G;G) |
| Significance | Non-pathogenic |
| Disease | SCID due to absent class II HLA antigens not specified |
| Variation | info |
| Gene | CIITA |
| CLNDBN | SCID due to absent class II HLA antigens not specified |
| Reversed | 0 |
| HGVS | NC_000016.9:g.11000848G>C |
| CLNSRC | |
| CLNACC | RCV000378352.1, RCV000454576.1, |
