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rs280519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs280519(A;G)
Make rs280519(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position10362257
GeneTYK2
is asnp
is mentioned by
dbSNPrs280519
dbSNP (classic)rs280519
ClinGenrs280519
ebirs280519
HLIrs280519
Exacrs280519
Gnomadrs280519
Varsomers280519
LitVarrs280519
Maprs280519
PheGenIrs280519
Biobankrs280519
1000 genomesrs280519
hgdprs280519
ensemblrs280519
geneviewrs280519
scholarrs280519
googlers280519
pharmgkbrs280519
gwascentralrs280519
openSNPrs280519
23andMers280519
SNPshotrs280519
SNPdbers280519
MSV3drs280519
GWAS Ctlgrs280519
GMAF0.4743
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 19440814] Lack of association between tyrosine kinase 2 (TYK2) gene polymorphisms and susceptibility to SLE in a Japanese population; 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

GWAS snp
PMID [PMID 20953190OA-icon.png]
Trait
Title A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
Risk Allele A
P-val 4E-9
Odds Ratio 1.1300 [1.05-1.21]


[PMID 21140222] Meta-analysis of TYK2 gene polymorphisms association with susceptibility to autoimmune and inflammatory diseases


[PMID 15657875OA-icon.png] Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.


[PMID 19838195OA-icon.png] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.


[PMID 22592861] Associations between PXK and TYK2 polymorphisms and systemic lupus erythematosus: a meta-analysis.


[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 25104439OA-icon.png] Genetic variation in the JAK/STAT/SOCS signaling pathway influences breast cancer-specific mortality through interaction with cigarette smoking and use of aspirin/NSAIDs: the Breast Cancer Health Disparities Study


ClinVar
Risk rs280519(G;G)
Alt rs280519(G;G)
Reference Rs280519(A;A)
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.10472933A>G
CLNSRC
CLNACC RCV000245301.1, RCV000394899.1,