rs2304256
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | normal | |
| (A;C) | 1.6x increased risk for SLE | |
| (C;C) | 0.1 | 1.6x increased risk for SLE |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 10364976 |
| Gene | TYK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2304256 |
| dbSNP (classic) | rs2304256 |
| ClinGen | rs2304256 |
| ebi | rs2304256 |
| HLI | rs2304256 |
| Exac | rs2304256 |
| Gnomad | rs2304256 |
| Varsome | rs2304256 |
| LitVar | rs2304256 |
| Map | rs2304256 |
| PheGenI | rs2304256 |
| Biobank | rs2304256 |
| 1000 genomes | rs2304256 |
| hgdp | rs2304256 |
| ensembl | rs2304256 |
| geneview | rs2304256 |
| scholar | rs2304256 |
| rs2304256 | |
| pharmgkb | rs2304256 |
| gwascentral | rs2304256 |
| openSNP | rs2304256 |
| 23andMe | rs2304256 |
| SNPshot | rs2304256 |
| SNPdbe | rs2304256 |
| MSV3d | rs2304256 |
| GWAS Ctlg | rs2304256 |
| GMAF | 0.287 |
| Max Magnitude | 0.1 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
rs2304256 is a SNP in the TYK2 gene on chromosome 19. The most common allele, rs2304256(C), has been associated with increased risk for systemic lupus erythematosus (SLE), with an odds ratio of 1.6 (CI: 1.3-1.9).[PMID 15657875
]
[PMID 19440814] No association was seen between this SNP and SLE in a study of 411 Japanese SLE patients.
[PMID 19653082] Strong Evidence of a Combination Polymorphism of the Tyrosine Kinase 2 Gene and the Signal Transducer and Activator of Transcription 3 Gene as a DNA-Based Biomarker for Susceptibility to Crohn's Disease in the Japanese Population
[PMID 19714582] Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors
| GWAS snp | |
|---|---|
| PMID | [PMID 19966805]
|
| Trait | Type 1 diabetes |
| Title | The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes |
| Risk Allele | C |
| P-val | 4E-9 |
| Odds Ratio | 1.16 [1.11-1.22] |
[PMID 21140222] Meta-analysis of TYK2 gene polymorphisms association with susceptibility to autoimmune and inflammatory diseases
| GWAS snp | |
|---|---|
| PMID | [PMID 21829393]
|
| Trait | |
| Title | Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. |
| Risk Allele | |
| P-val | 1E-10 |
| Odds Ratio | None None |
[PMID 18270328] Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.
[PMID 19442287] Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.
[PMID 19567624] Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus.
[PMID 19604093] Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients.
[PMID 19758313] Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus.
[PMID 22592861] Associations between PXK and TYK2 polymorphisms and systemic lupus erythematosus: a meta-analysis.
[PMID 23000200] TYK2 rs34536443 polymorphism is associated with a decreased susceptibility to endometriosis-related infertility.
[PMID 25744728] Tyrosine kinase-2 gene polymorphisms are associated with ulcerative colitis and Crohn's disease in Turkish Population
[PMID 26294277] Genetic association and interaction between the IRF5 and TYK2 genes and systemic lupus erythematosus in the Han Chinese population
[PMID 26338038] Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway
| ClinVar | |
|---|---|
| Risk | Rs2304256(A;A) |
| Alt | Rs2304256(A;A) |
| Reference | Rs2304256(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Familial Atypical Mycobacteriosis |
| Variation | info |
| Gene | TYK2 |
| CLNDBN | not specified Familial Atypical Mycobacteriosis, Autosomal Recessive |
| Reversed | 0 |
| HGVS | NC_000019.9:g.10475652C>A |
| CLNSRC | |
| CLNACC | RCV000245153.1, RCV000272963.1, |
