rs33996649
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 1.2 | Slightly lower (~0.8x) risk for rheumatoid arthritis |
| (T;T) | 1.6 | Slightly lower (~0.65x) risk for rheumatoid arthritis |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 113852067 |
| Gene | AP4B1-AS1, PTPN22 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33996649 |
| dbSNP (classic) | rs33996649 |
| ClinGen | rs33996649 |
| ebi | rs33996649 |
| HLI | rs33996649 |
| Exac | rs33996649 |
| Gnomad | rs33996649 |
| Varsome | rs33996649 |
| LitVar | rs33996649 |
| Map | rs33996649 |
| PheGenI | rs33996649 |
| Biobank | rs33996649 |
| 1000 genomes | rs33996649 |
| hgdp | rs33996649 |
| ensembl | rs33996649 |
| geneview | rs33996649 |
| scholar | rs33996649 |
| rs33996649 | |
| pharmgkb | rs33996649 |
| gwascentral | rs33996649 |
| openSNP | rs33996649 |
| 23andMe | rs33996649 |
| SNPshot | rs33996649 |
| SNPdbe | rs33996649 |
| MSV3d | rs33996649 |
| GWAS Ctlg | rs33996649 |
| GMAF | 0.0124 |
| Max Magnitude | 1.6 |
rs33996649, also known as c.788G>A, Arg263Gln and R263Q, represents a variant in the PTPN22 gene located on chromosome 1. Some studies have linked the minor allele of this SNP to slightly reduced risk for several autoimmune diseases such as Crohn's disease, ulcerative colitis and rheumatoid arthritis.
[PMID 21131644
] Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
[PMID 21287672] Differential association of two PTPN22 coding variants with Crohn's disease and ulcerative colitis
[PMID 16175503] PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.
[PMID 21193990] A PTPN22 promoter polymorphism -1123G>C is associated with RA pathogenesis in Chinese.
[PMID 21279993] The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples.
[PMID 23450494] [Association of polymorphisms of PTPN22 and PADI4 genes with rheumatoid arthritis in Yunnan]
[PMID 23946333] Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis
[PMID 25073032] Association Between a Gain-of-Function Variant of PTPN22 and Rejection in Liver Transplantation
[PMID 30636557] Single Nucleotide Polymorphisms of PTPN22 Gene in Iranian Patients with Ulcerative Colitis.
