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rs2304256

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) normal
(A;C) 1.6x increased risk for SLE
(C;C) 1.6x increased risk for SLE
ReferenceGRCh38 38.1/141
Chromosome19
Position10364976
GeneTYK2
is asnp
is mentioned by
dbSNPrs2304256
ebirs2304256
HLIrs2304256
Exacrs2304256
Varsomers2304256
Maprs2304256
PheGenIrs2304256
hapmaprs2304256
1000 genomesrs2304256
hgdprs2304256
ensemblrs2304256
gopubmedrs2304256
geneviewrs2304256
scholarrs2304256
googlers2304256
pharmgkbrs2304256
gwascentralrs2304256
openSNPrs2304256
23andMers2304256
23andMe allrs2304256
SNP Nexus

SNPshotrs2304256
SNPdbers2304256
MSV3drs2304256
GWAS Ctlgrs2304256
GMAF0.287
Max Magnitude
? (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 15657875OA-icon.png]

[PMID 19440814] No association was seen between this SNP and SLE in a study of 411 Japanese SLE patients.


[PMID 19653082OA-icon.png] 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 19966805OA-icon.png]
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 21829393OA-icon.png]
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 18270328OA-icon.png] Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.

[PMID 19442287OA-icon.png] 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 19604093OA-icon.png] 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.


GET Evidence
TYK2-V362F
aa_change Val362Phe
aa_change_short V362F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.225042
summary



[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