rs4833095

Homo sapiens
T>C
TLR1 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0392 (47293/120602,ExAC)
C=0408 (12218/29948,GnomAD)
T==0477 (13913/29118,TOPMED)
T==0427 (5565/13004,GO-ESP)
T==0425 (2130/5008,1000G)
C=0248 (954/3854,ALSPAC)
C=0226 (837/3708,TWINSUK)
chr4:38798089 (GRCh38.p7) (4p14)
AD
GWASdb2
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.38798089T>C
GRCh37.p13 chr 4NC_000004.11:g.38799710T>C
TLR1 RefSeqGeneNG_016228.1:g.11703A>G

Gene: TLR1, toll like receptor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TLR1 transcriptNM_003263.3:c.743A>GN [AAT]> S [AGT]Coding Sequence Variant
toll-like receptor 1 precursorNP_003254.2:p.Asn...NP_003254.2:p.Asn248SerN [Asn]> S [Ser]Missense Variant
TLR1 transcript variant X1XM_005262662.4:c....XM_005262662.4:c.743A>GN [AAT]> S [AGT]Coding Sequence Variant
toll-like receptor 1 isoform X1XP_005262719.1:p....XP_005262719.1:p.Asn248SerN [Asn]> S [Ser]Missense Variant
TLR1 transcript variant X2XM_017008571.1:c....XM_017008571.1:c.743A>GN [AAT]> S [AGT]Coding Sequence Variant
toll-like receptor 1 isoform X1XP_016864060.1:p....XP_016864060.1:p.Asn248SerN [Asn]> S [Ser]Missense Variant
TLR1 transcript variant X5XM_011513742.2:c....XM_011513742.2:c.743A>GN [AAT]> S [AGT]Coding Sequence Variant
toll-like receptor 1 isoform X1XP_011512044.1:p....XP_011512044.1:p.Asn248SerN [Asn]> S [Ser]Missense Variant
TLR1 transcript variant X6XM_011513743.2:c....XM_011513743.2:c.743A>GN [AAT]> S [AGT]Coding Sequence Variant
toll-like receptor 1 isoform X1XP_011512045.1:p....XP_011512045.1:p.Asn248SerN [Asn]> S [Ser]Missense Variant
TLR1 transcript variant X7XM_017008572.1:c....XM_017008572.1:c.743A>GN [AAT]> S [AGT]Coding Sequence Variant
toll-like receptor 1 isoform X1XP_016864061.1:p....XP_016864061.1:p.Asn248SerN [Asn]> S [Ser]Missense Variant
TLR1 transcript variant X8XM_011513744.2:c....XM_011513744.2:c.743A>GN [AAT]> S [AGT]Coding Sequence Variant
toll-like receptor 1 isoform X1XP_011512046.1:p....XP_011512046.1:p.Asn248SerN [Asn]> S [Ser]Missense Variant
TLR1 transcript variant X9XM_011513745.2:c....XM_011513745.2:c.743A>GN [AAT]> S [AGT]Coding Sequence Variant
toll-like receptor 1 isoform X1XP_011512047.1:p....XP_011512047.1:p.Asn248SerN [Asn]> S [Ser]Missense Variant
TLR1 transcript variant X4XR_925165.1:n.101...XR_925165.1:n.1017A>GA>GNon Coding Transcript Variant
TLR1 transcript variant X3XR_925163.2:n.101...XR_925163.2:n.1017A>GA>GNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.120C=0.880
1000GenomesAmericanSub694T=0.530C=0.470
1000GenomesEast AsianSub1008T=0.401C=0.599
1000GenomesEuropeSub1006T=0.720C=0.280
1000GenomesGlobalStudy-wide5008T=0.425C=0.575
1000GenomesSouth AsianSub978T=0.490C=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.752C=0.248
The Exome Aggregation ConsortiumAmericanSub21536T=0.349C=0.650
The Exome Aggregation ConsortiumAsianSub25068T=0.474C=0.525
The Exome Aggregation ConsortiumEuropeSub73094T=0.729C=0.270
The Exome Aggregation ConsortiumGlobalStudy-wide120602T=0.607C=0.392
The Exome Aggregation ConsortiumOtherSub904T=0.620C=0.380
The Genome Aggregation DatabaseAfricanSub8726T=0.205C=0.795
The Genome Aggregation DatabaseAmericanSub836T=0.520C=0.480
The Genome Aggregation DatabaseEast AsianSub1614T=0.401C=0.599
The Genome Aggregation DatabaseEuropeSub18470T=0.795C=0.204
The Genome Aggregation DatabaseGlobalStudy-wide29948T=0.592C=0.408
The Genome Aggregation DatabaseOtherSub302T=0.550C=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.477C=0.522
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.774C=0.226
PMID Title Author Journal
26793196Gene Association with Leprosy: A Review of Published Data.Mazini PSFront Immunol
19503599The impact of divergence time on the nature of population structure: an example from Iceland.Price ALPLoS Genet
26430737TLR1, 2, 4, 6 and 9 Variants Associated with Tuberculosis Susceptibility: A Systematic Review and Meta-Analysis.Schurz HPLoS One
27708669Genetic susceptibility to allergic bronchopulmonary aspergillosis in asthma: a genetic association study.Overton NLAllergy Asthma Clin Immunol
26226228A Prospective Evaluation of the Association between a Single Nucleotide Polymorphism rs3775291 in Toll-Like Receptor 3 and Breast Cancer Relapse.Chen DNPLoS One
23255565Racial variation in toll-like receptor variants among women with pelvic inflammatory disease.Taylor BDJ Infect Dis
17554260Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.Todd JANat Genet
26753840Ancient DNA and the rewriting of human history: be sparing with Occam's razor.Haber MGenome Biol
26924531Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia.Galinsky KJAm J Hum Genet
24281113Inflammatory genetic markers of prostate cancer risk.Tindall EACancers (Basel)
27806314TLR1 polymorphism rs4833095 as a risk factor for IgA nephropathy in a Chinese Han population: A case-control study.Gao JOncotarget
18396467Genetic variation and haplotype structures of innate immunity genes in eastern India.Bairagya BBInfect Genet Evol
20478407The toll-like receptor 1 variant S248N influences placental malaria.Hamann LInfect Genet Evol
19456232Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions.Schuring RPJ Infect Dis
21872627Association of polymorphisms in TLR genes and in genes of the Toll-like receptor signaling pathway with cancer risk.Kutikhin AGHum Immunol
20617178Leprosy and the adaptation of human toll-like receptor 1.Wong SHPLoS Pathog
21108742Toll-like receptor 1 gene polymorphisms in childhood IgA nephropathy: a case-control study in the Korean population.Lee JSInt J Immunogenet
22359464Are Toll-like receptor gene polymorphisms associated with prostate cancer?Kutikhin AGCancer Manag Res
21867552Host candidate gene polymorphisms and clearance of drug-resistant Plasmodium falciparum parasites.Diakite MMalar J
20200442Sequence variants in the TLR4 and TLR6-1-10 genes and prostate cancer risk. Results based on pooled analysis from three independent studies.Lindstrom SCancer Epidemiol Biomarkers Prev
21371045TLR2 polymorphisms influence neonatal regulatory T cells depending on maternal atopy.Liu JAllergy
17475868The polymorphism P315L of human toll-like receptor 1 impairs innate immune sensing of microbial cell wall components.Omueti KOJ Immunol
25028161Polymorphisms in TLR1, TLR6 and TLR10 genes and the risk of Graves' disease.Xiao WAutoimmunity
21998742TLR1/TLR2 heterodimers play an important role in the recognition of Borrelia spirochetes.Oosting MPLoS One
23776356Allergic rhinitis and genetic components: focus on Toll-like receptors (TLRs) gene polymorphism.Gao ZAppl Clin Genet
19543401Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women.Hawn TRPLoS One
22238472Variants in toll-like receptor 1 and 4 genes are associated with Chlamydia trachomatis among women with pelvic inflammatory disease.Taylor BDJ Infect Dis
26748514Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors.Dannemann MAm J Hum Genet
18635889Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis.Wurfel MMAm J Respir Crit Care Med
21048935Common variants of TLR1 associate with organ dysfunction and sustained pro-inflammatory responses during sepsis.Pino-Yanes MPLoS One
23272139Association of the innate immunity and inflammation pathway with advanced prostate cancer risk.Kazma RPLoS One
21483748Influence of polymorphisms in innate immunity genes on susceptibility to invasive aspergillosis after stem cell transplantation.de Boer MGPLoS One
22957039Candidate polymorphisms and severe malaria in a Malian population.Toure OPLoS One
24780078Association between TLR1 polymorphisms and alopecia areata.Seok HAutoimmunity
26019233Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding locidagger.Kirsten HHum Mol Genet
26738805A common TLR1 polymorphism is associated with higher parasitaemia in a Southeast Asian population with Plasmodium falciparum malaria.Hahn WOMalar J
26440629Genetic Variations in Pattern Recognition Receptor Loci Are Associated with Anti-TNF Response in Patients with Rheumatoid Arthritis.Sode JPLoS One
26643661Preliminary evaluation of exome sequencing to identify genetic markers of susceptibility to tuberculosis disease.Duncan CBMC Res Notes
20459687Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.Eid NAMalar J
22301633Toll-like receptor 1 polymorphisms increase susceptibility to candidemia.Plantinga TSJ Infect Dis
25945796Association between Variants in Atopy-Related Immunologic Candidate Genes and Pancreatic Cancer Risk.Cotterchio MPLoS One
25687912Toll-like receptor 1 and 10 polymorphisms, Helicobacter pylori susceptibility and risk of gastric lesions in a high-risk Chinese population.Tang FBInfect Genet Evol
23478521Toll-like receptor 1 polymorphisms and associated outcomes in sepsis after traumatic injury: a candidate gene association study.Thompson CMAnn Surg
28327786Polymorphisms in genes TLR1, 2 and 4 are associated with differential cytokine and chemokine serum production in patients with leprosy.Santana NLMem Inst Oswaldo Cruz
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet
26748513Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes.Deschamps MAm J Hum Genet
18752252Genetic variation in the toll-like receptor gene cluster (TLR10-TLR1-TLR6) and prostate cancer risk.Stevens VLInt J Cancer
26698117Polymorphisms in the Toll-Like Receptor and the IL-23/IL-17 Pathways Were Associated with Susceptibility to Inflammatory Bowel Disease in a Danish Cohort.Bank SPLoS One
19134200No evidence of major effects in several Toll-like receptor gene polymorphisms in rheumatoid arthritis.Jaen OArthritis Res Ther
21776015Toll-like receptor 4 region genetic variants are associated with susceptibility to melioidosis.West TEGenes Immun
19567509Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.Breyer JPCancer Epidemiol Biomarkers Prev
22529866Genetic Diversity of Toll-Like Receptors and Immunity to M. leprae Infection.Hart BEJ Trop Med
20445564Single nucleotide polymorphisms in toll-like receptor 6 are associated with altered lipopeptide- and mycobacteria-induced interleukin-6 secretion.Shey MSGenes Immun

P-Value

SNP ID p-value Traits Study
rs48330955.55E-06alcohol consumption23743675

eQTL of rs4833095 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs4833095 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr43876089838761605E067-38105
chr43875394338755431E068-44279
chr43876089838761605E069-38105
chr43875307438753285E071-46425
chr43875333838753545E071-46165
chr43875356438753626E071-46084
chr43875394338755431E071-44279
chr43875968438759867E071-39843
chr43876089838761605E071-38105
chr43876222738762320E071-37390
chr43876407238764727E071-34983
chr43880262538802717E0712915
chr43880272438802921E0713014
chr43880308438803124E0713374
chr43881807538818437E07118365
chr43881856438818649E07118854
chr43876089838761605E072-38105
chr43876172238761850E072-37860
chr43876190738761976E072-37734
chr43876222738762320E072-37390
chr43881807538818437E07218365
chr43875333838753545E074-46165
chr43875356438753626E074-46084
chr43875957638759666E074-40044
chr43875968438759867E074-39843
chr43876089838761605E074-38105
chr43876172238761850E074-37860
chr43876190738761976E074-37734
chr43876222738762320E074-37390
chr43877100638771202E074-28508
chr43875105738751361E081-48349
chr43875158138751637E081-48073
chr43875163938751719E081-47991
chr43875394338755431E081-44279
chr43875105738751361E082-48349
chr43875158138751637E082-48073
chr43875163938751719E082-47991








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr43880566838807737E0675958
chr43880436838804525E0684658
chr43880467738804759E0684967
chr43880523438805284E0685524
chr43880566838807737E0685958
chr43880523438805284E0695524
chr43880566838807737E0695958
chr43880403138804077E0714321
chr43880417738804308E0714467
chr43880436838804525E0714658
chr43880467738804759E0714967
chr43880523438805284E0715524
chr43880566838807737E0715958
chr43880436838804525E0724658
chr43880467738804759E0724967
chr43880523438805284E0725524
chr43880566838807737E0725958
chr43880467738804759E0734967
chr43880523438805284E0735524
chr43880566838807737E0735958
chr43880403138804077E0744321
chr43880417738804308E0744467
chr43880436838804525E0744658
chr43880467738804759E0744967
chr43880523438805284E0745524
chr43880566838807737E0745958