Have questions? Visit https://www.reddit.com/r/SNPedia

rs12720356

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common on affy axiom data
Make rs12720356(G;G)
Make rs12720356(G;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position10359299
GeneTYK2
is asnp
is mentioned by
dbSNPrs12720356
ebirs12720356
HLIrs12720356
Exacrs12720356
Varsomers12720356
Maprs12720356
PheGenIrs12720356
hapmaprs12720356
1000 genomesrs12720356
hgdprs12720356
ensemblrs12720356
gopubmedrs12720356
geneviewrs12720356
scholarrs12720356
googlers12720356
pharmgkbrs12720356
gwascentralrs12720356
openSNPrs12720356
23andMers12720356
23andMe allrs12720356
SNP Nexus

SNPshotrs12720356
SNPdbers12720356
MSV3drs12720356
GWAS Ctlgrs12720356
GMAF0.04545
Max Magnitude0
? (G;G) (G;T) (T;T) 28
GWAS snp
PMID [PMID 21102463OA-icon.png]
Trait
Title Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
Risk Allele G
P-val 1E-12
Odds Ratio 1.1200 [1.06-1.19]
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-11
Odds Ratio 1.4000 [1.23-1.61]


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

[PMID 19249008OA-icon.png] Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease.

[PMID 19434718OA-icon.png] Variants in interferon-alpha pathway genes and response to pegylated interferon-Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long-term treatment against cirrhosis trial.

[PMID 19604093OA-icon.png] Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis 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.


GET Evidence
TYK2-I684S
aa_change Ile684Ser
aa_change_short I684S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0685199
summary



[PMID 23000200] TYK2 rs34536443 polymorphism is associated with a decreased susceptibility to endometriosis-related infertility.


[PMID 26338038] Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway