rs280519

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs280519(A;G)

Make rs280519(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

10362257

Gene

TYK2

is a	snp
is	mentioned by
dbSNP	rs280519
dbSNP (classic)	rs280519
ClinGen	rs280519
ebi	rs280519
HLI	rs280519
Exac	rs280519
Gnomad	rs280519
Varsome	rs280519
LitVar	rs280519
Map	rs280519
PheGenI	rs280519
Biobank	rs280519
1000 genomes	rs280519
hgdp	rs280519
ensembl	rs280519
geneview	rs280519
scholar	rs280519
google	rs280519
pharmgkb	rs280519
gwascentral	rs280519
openSNP	rs280519
23andMe	rs280519
SNPshot	rs280519
SNPdbe	rs280519
MSV3d	rs280519
GWAS Ctlg	rs280519

GMAF

0.4743

Max Magnitude

0

?	(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 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

GWAS snp
PMID	[PMID 20953190]
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 15657875] Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.

[PMID 19838195] 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 25104439] 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,