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rs3764880

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.6 1.2 - 1.8x increased tuberculosis risk
(A;G) 1.5 possible 1.2 - 1.8x increased tuberculosis susceptibility in females
(G;G) 0 normal
ReferenceGRCh38 38.1/141
ChromosomeX
Position12906707
GeneTLR8, TLR8-AS1
is asnp
is mentioned by
dbSNPrs3764880
ebirs3764880
HLIrs3764880
Exacrs3764880
Varsomers3764880
Maprs3764880
PheGenIrs3764880
hapmaprs3764880
1000 genomesrs3764880
hgdprs3764880
ensemblrs3764880
gopubmedrs3764880
geneviewrs3764880
scholarrs3764880
googlers3764880
pharmgkbrs3764880
gwascentralrs3764880
openSNPrs3764880
23andMers3764880
23andMe allrs3764880
SNP Nexus

SNPshotrs3764880
SNPdbers3764880
MSV3drs3764880
GWAS Ctlgrs3764880
GMAF0.4389
Max Magnitude1.6
? (A;A) (A;G) (G;G) 28
rs3764880 is a SNP in the TLR8 gene, located on the X chromosome. rs3764880 is also known as Met1Val.

A study of both Indonesian and Russian tuberculosis patients (and controls) concluded that the minor (A) allele of rs3764880 was associated with increased risk for tuberculosis. In the Indonesian population of 375 patients, the odds ratio was 1.8 (CI: 1.2–2.7); in the Russian population of 1,837 patients, the odds ratio was 1.2 (CI: 1.02–1.48); the combined evidence for association was p = 1.2×10e?3 – 6×10e?4. Note that the association was found primarily in males (although also to a lesser extent in homozygous females), presumably due to the presence of only one X chromosome in males. [PMID 18927625OA-icon.png]


[PMID 20652908] Genetic modulation of TLR8 response following bacterial phagocytosis

[PMID 18605904] A functional toll-like receptor 8 variant is associated with HIV disease restriction.

[PMID 18985439] Toll-like receptor 8 polymorphism and coronary artery disease.

[PMID 19450131OA-icon.png] Application of pharmacogenomics to vaccines.

[PMID 19505919OA-icon.png] Toll-like receptor signaling pathway variants and prostate cancer mortality.

[PMID 20041166OA-icon.png] Common genetic variation and the control of HIV-1 in humans.

[PMID 21872627] Association of polymorphisms in TLR genes and in genes of the Toll-like receptor signaling pathway with cancer risk.

[PMID 22065095] TLR7/8/9 polymorphisms and their associations in systemic lupus erythematosus patients from southern Brazil.


GET Evidence
TLR8-M1V
aa_change Met1Val
aa_change_short M1V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.254081
summary