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rs5744168

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(G;G) 0
Make rs5744168(C;T)
Make rs5744168(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position223111858
GeneTLR5
is asnp
is mentioned by
dbSNPrs5744168
ebirs5744168
HLIrs5744168
Exacrs5744168
Varsomers5744168
Maprs5744168
PheGenIrs5744168
hapmaprs5744168
1000 genomesrs5744168
hgdprs5744168
ensemblrs5744168
gopubmedrs5744168
geneviewrs5744168
scholarrs5744168
googlers5744168
pharmgkbrs5744168
gwascentralrs5744168
openSNPrs5744168
23andMers5744168
23andMe allrs5744168
SNP Nexus

SNPshotrs5744168
SNPdbers5744168
MSV3drs5744168
GWAS Ctlgrs5744168
GMAF0.03994
Max Magnitude0
OMIM603031
DescLEGIONNAIRE DISEASE, SUSCEPTIBILITY TO
Variant0001
Relatedalso
Neighborrs2072493
Distance601


[PMID 19473567] Investigation of TLR5 and TLR7 as candidate genes for susceptibility to systemic lupus erythematosus


[PMID 21068401] TLR5 as an Anti-Inflammatory Target and Modifier Gene in Cystic Fibrosis


[PMID 21494356OA-icon.png] Association of Toll-Like Receptor 5 Gene Polymorphism with Susceptibility to Ossification of the Posterior Longitudinal Ligament of the Spine in Korean Population


ClinVar
Risk rs5744168(T;T)
Alt rs5744168(T;T)
Reference rs5744168(C;C)
Significance Other
Disease Legionellosis Systemic lupus erythematosus Melioidosis
Variation info
Gene TLR5
CLNDBN Legionellosis Systemic lupus erythematosus, resistance to, 1 Melioidosis, resistance to
Reversed 1
HGVS NC_000001.10:g.223285200G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007037.4, RCV000007038.5, RCV000074501.5,



[PMID 16846490OA-icon.png] Lemierre's syndrome and genetic polymorphisms: a case report.


[PMID 17516623] Association study of Toll-like receptor 5 (TLR5) and Toll-like receptor 9 (TLR9) polymorphisms in systemic lupus erythematosus.


[PMID 18396467OA-icon.png] Genetic variation and haplotype structures of innate immunity genes in eastern India.


[PMID 18635889OA-icon.png] Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis.


[PMID 19543401OA-icon.png] Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women.


[PMID 19838195OA-icon.png] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.


[PMID 20016852OA-icon.png] Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women.


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


GET Evidence
TLR5-R392X
aa_change Arg392Stop
aa_change_short R392X
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.0439673
summary This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.



[PMID 23447684OA-icon.png] Impaired TLR5 functionality is associated with survival in melioidosis.


[PMID 23455496] A nonsense polymorphism (R392X) in TLR5 protects from obesity but predisposes to diabetes.


[PMID 23526294] Polymorphisms in toll-like receptors 2, 4 and 5 are associated with Legionella pneumophila infection.


[PMID 25807366OA-icon.png] Urinary Proteins, Vitamin D and Genetic Polymorphisms as Risk Factors for Febrile Urinary Tract Infection and Relation with Bacteremia: A Case Control Study