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rs34536443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 6.3 Much higher (90 fold) risk of developing tuberculosis if exposed to TB bacterium
(C;G) 3 Carrier of a tuberculosis susceptibility mutation
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome19
Position10352442
GeneTYK2
is asnp
is mentioned by
dbSNPrs34536443
dbSNP (classic)rs34536443
ClinGenrs34536443
ebirs34536443
HLIrs34536443
Exacrs34536443
Gnomadrs34536443
Varsomers34536443
LitVarrs34536443
Maprs34536443
PheGenIrs34536443
Biobankrs34536443
1000 genomesrs34536443
hgdprs34536443
ensemblrs34536443
geneviewrs34536443
scholarrs34536443
googlers34536443
pharmgkbrs34536443
gwascentralrs34536443
openSNPrs34536443
23andMers34536443
23andMe allrs34536443
SNPshotrs34536443
SNPdbers34536443
MSV3drs34536443
GWAS Ctlgrs34536443
GMAF0.01423
Max Magnitude6.3

aka c.3310C>G (p.Pro1104Ala or P1104A)

Inherited recessively, this variant appears to greatly increase (OR 89.3, CI: 14.7 - 1725, p=8.3x10e-8) the risk of developing tuberculosis according to a 2018 study, if the carrier of the minor homozygote genotype is exposed to the tuberculosis mycobacterium. The mechanism by which this occurs led to the suggestion that at-risk individuals could potentially prevent or treat the disease with gamma-interferon.[PMID 30578352OA-icon.png]

In Europeans, one in 600 people have two copies of the rs10352442(C) variant (which is the c.3310(G) variant), and in the rest of the world, the rate is estimated to be between one in 1,000 to one in 10,000.[1]


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


[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 19293837OA-icon.png] Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor.


[PMID 19888296OA-icon.png] A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis.


[PMID 20405052OA-icon.png] The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.


[PMID 21354972] Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility.



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

GWAS snp
PMID [PMID 24390342OA-icon.png]
Trait Rheumatoid arthritis
Title Genetics of rheumatoid arthritis contributes to biology and drug discovery.
Risk Allele G
P-val 5E-16
Odds Ratio 1.46 [1.33-1.60]


ClinVar
Risk Rs34536443(C;C)
Alt Rs34536443(C;C)
Reference Rs34536443(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.10463118G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000126195.2, RCV000299820.1,



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


[PMID 27440135] Investigation of the genetic overlap between rheumatoid arthritis and psoriatic arthritis in a Greek population.