{{Rsnum
|rsid=5744168
|Gene=TLR5
|Chromosome=1
|position=223111858
|Orientation=minus
|ReferenceAllele=C
|GMAF=0.03994
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=TLR5
}}{{omim
|desc=LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO
|id=603031
|rsnum=5744168
|variant=0001
}}
{{ neighbor
| rsid = 2072493
| distance = 601
}}

{{PMID Auto
|PMID=19473567
|Title=Investigation of TLR5 and TLR7 as candidate genes for susceptibility to systemic lupus erythematosus
}}

{{PMID Auto
|PMID=21068401
|Title=TLR5 as an Anti-Inflammatory Target and Modifier Gene in Cystic Fibrosis
}}

{{PMID Auto
|PMID=21494356
|Title=Association of Toll-Like Receptor 5 Gene Polymorphism with Susceptibility to Ossification of the Posterior Longitudinal Ligament of the Spine in Korean Population
|OA=1
}}

{{ClinVar
|rsid=5744168
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=223111858
|CHROM=1
|GMAF=0.0398
|dbSNPBuildID=114
|SSR=0
|SAO=1
|VP=0x05036800060515051e110100
|GENEINFO=TLR5:7100
|GENE_NAME=TLR5
|GENE_ID=7100
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.223111858G>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_003268.5:c.1174C>T; 603031.0001
|CLNSIG=255
|CLNCUI=C1837872
|CLNDBN=Legionellosis; Systemic lupus erythematosus, resistance to, 1; Melioidosis, resistance to
|Disease=Legionellosis; Systemic lupus erythematosus; Melioidosis
|CLNACC=RCV000007037.2; RCV000007038.2; RCV000074501.2
|Tags=RV;PM;PMC;S3D;SLO;NSN;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.9601; 0.03994
|CLNDSDB=MedGen:OMIM; MedGen
|CLNDSDBID=C1837872:608556; C1864265; CN182252
|COMMON=1
}}

{{PMID Auto
|PMID=16846490
|Title=Lemierre's syndrome and genetic polymorphisms: a case report.
|OA=1
}}

{{PMID Auto
|PMID=17516623
|Title=Association study of Toll-like receptor 5 (TLR5) and Toll-like receptor 9 (TLR9) polymorphisms in systemic lupus erythematosus.
}}

{{PMID Auto
|PMID=18396467
|Title=Genetic variation and haplotype structures of innate immunity genes in eastern India.
|OA=1
}}

{{PMID Auto
|PMID=18635889
|Title=Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis.
|OA=1
}}

{{PMID Auto
|PMID=19543401
|Title=Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women.
|OA=1
}}

{{PMID Auto
|PMID=19838195
|Title=A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
|OA=1
}}

{{PMID Auto
|PMID=20016852
|Title=Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women.
|OA=1
}}

{{PMID Auto
|PMID=21872627
|Title=Association of polymorphisms in TLR genes and in genes of the Toll-like receptor signaling pathway with cancer risk.
}}

{{GET Evidence
|gene=TLR5
|aa_change=Arg392Stop
|aa_change_short=R392X
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs5744168
|overall_frequency_n=473
|overall_frequency_d=10758
|overall_frequency=0.0439673
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualityscore_case_control=1
|qualitycomment_case_control=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|in_omim=Y
|nblosum100=10
|autoscore=4
|webscore=N
|variant_evidence=0
|clinical_importance=0
|summary_short=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 Auto
|PMID=23447684
|Title=Impaired TLR5 functionality is associated with survival in melioidosis.
|OA=1
}}

{{PMID Auto
|PMID=23455496
|Title=A nonsense polymorphism (R392X) in TLR5 protects from obesity but predisposes to diabetes.
}}

{{PMID Auto
|PMID=23526294
|Title=Polymorphisms in toll-like receptors 2, 4 and 5 are associated with Legionella pneumophila infection.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}