rs280523

plus

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

Make rs280523(A;A)

Make rs280523(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

10366530

Gene

TYK2

is a	snp
is	mentioned by
dbSNP	rs280523
dbSNP (classic)	rs280523
ClinGen	rs280523
ebi	rs280523
HLI	rs280523
Exac	rs280523
Gnomad	rs280523
Varsome	rs280523
LitVar	rs280523
Map	rs280523
PheGenI	rs280523
Biobank	rs280523
1000 genomes	rs280523
hgdp	rs280523
ensembl	rs280523
geneview	rs280523
scholar	rs280523
google	rs280523
pharmgkb	rs280523
gwascentral	rs280523
openSNP	rs280523
23andMe	rs280523
SNPshot	rs280523
SNPdbe	rs280523
MSV3d	rs280523
GWAS Ctlg	rs280523

GMAF

0.07805

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

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

ClinVar
Risk	rs280523(A;A) rs280523(C;C)
Alt	rs280523(A;A) rs280523(C;C)
Reference	Rs280523(G;G)
Significance	Probable-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.10477206G>A
CLNSRC	ClinVar GeneDx
CLNACC	RCV000126189.1, RCV000280944.1,

[PMID 25744728] Tyrosine kinase-2 gene polymorphisms are associated with ulcerative colitis and Crohn's disease in Turkish Population