chr9:117713324:C>T Detail (hg38) (TLR4)

Information

Genome

Assembly Position
hg19 chr9:120,475,602-120,475,602 View the variant detail on this assembly version.
hg38 chr9:117,713,324-117,713,324

HGVS

Type Transcript Protein
RefSeq NM_138554.4:c.1196C>T NP_612564.1:p.Thr399Ile
NM_003266.3:c.1076C>T NP_003257.1:p.Thr359Ile
Ensemble ENST00000355622.8:c.1196C>T ENST00000355622.8:p.Thr399Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 603030 OMIM
HGNC 11850 HGNC
Ensembl ENSG00000136869 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37430623 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2002-07-18 no assertion criteria provided TLR4 POLYMORPHISM germline Detail
not provided no assertion provided not provided not provided Detail
Uncertain significance 2023-09-01 no assertion criteria provided COPD, severe early onset germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.006 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.004 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.010 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.002 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.004 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.017 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.003 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.003 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.005 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.001 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.007 stomach carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.006 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.008 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.013 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.017 tuberculosis Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and... BeFree 20002809 Detail
0.015 Diabetes Mellitus, Non-Insulin-Dependent In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.010 Coronary Arteriosclerosis In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
<0.001 Coronary Arteriosclerosis In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.134 coronary artery disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
<0.001 Coronary heart disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.008 Coronary heart disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.051 tuberculosis Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and... BeFree 20002809 Detail
<0.001 coronary artery disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.003 obesity In our study, TNF-alpha, soluble TNF receptor 1 (sTNFR1), and soluble TNF recept... BeFree 20357716 Detail
0.015 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
<0.001 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
0.012 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
0.002 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
0.001 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
0.005 gastritis We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD1... BeFree 20332463 Detail
0.014 gastritis We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD1... BeFree 20332463 Detail
0.560 Crohn Disease To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (... BeFree 18680223 Detail
0.034 ulcerative colitis To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (... BeFree 18680223 Detail
0.183 Crohn Disease To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (... BeFree 18680223 Detail
0.007 Malignant neoplasm of urinary bladder We examined the association between candidate disease-susceptibility polymorphis... BeFree 23142523 Detail
<0.001 Carcinoma of bladder We examined the association between candidate disease-susceptibility polymorphis... BeFree 23142523 Detail
<0.001 Malignant neoplasm of urinary bladder We examined the association between candidate disease-susceptibility polymorphis... BeFree 23142523 Detail
0.002 Carcinoma of bladder We examined the association between candidate disease-susceptibility polymorphis... BeFree 23142523 Detail
0.013 malaria The tlr-4 (D299G and T399I), tlr-9 (T-1486C and T-1237C) and tirap (S180L) genes... BeFree 21457584 Detail
0.016 malaria The tlr-4 (D299G and T399I), tlr-9 (T-1486C and T-1237C) and tirap (S180L) genes... BeFree 21457584 Detail
<0.001 Spondylarthropathies Lack of genetic association of the Toll-like receptor 4 (TLR4) Asp299Gly and Thr... BeFree 16567359 Detail
0.015 stomach carcinoma Assessment of the toll-like receptor 4 Asp299Gly, Thr399Ile and interleukin-8 -2... BeFree 17462092 Detail
0.010 Septicemia Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) hav... BeFree 18034244 Detail
0.010 Septicemia Our study investigated the association between TLR4 mutations (Asp299Gly and Thr... BeFree 12404174 Detail
0.015 Diabetes Mellitus, Non-Insulin-Dependent Toll-like receptor 4 gene Asp299Gly and Thr399Ile polymorphisms in type 2 diabet... BeFree 25648392 Detail
<0.001 Carotid Atherosclerosis A total of 3000 individuals from the prospective community-based Carotid Atheros... BeFree 17332447 Detail
0.017 periodontitis We screened 197 individuals suffering from generalized periodontitis for the pre... BeFree 15875057 Detail
0.003 Transient ischemic attack We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF... BeFree 16879054 Detail
0.058 asthma Determination of the TLR4 Asp299Gly/Thr399Ile haplotype is of no clinical benefi... BeFree 20711470 Detail
0.183 Crohn Disease The Toll-like receptor 4 D299G and T399I polymorphisms are associated with Crohn... BeFree 20093834 Detail
0.080 Transient ischemic attack We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF... BeFree 16879054 Detail
0.009 Malignant neoplasm of stomach TLR4/D299G/T399I polymorphisms were more frequent in duodenal ulcer and showed a... BeFree 18755634 Detail
0.004 colorectal carcinoma Positive link between variant Toll-like receptor 4 (Asp299Gly and Thr399Ile) and... BeFree 23949880 Detail
0.005 Septicemia Our study investigated the association between TLR4 mutations (Asp299Gly and Thr... BeFree 12404174 Detail
0.012 Bacterial Infections Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are asso... BeFree 16487238 Detail
0.010 Coronary Arteriosclerosis Two polymorphisms of the TLR4 gene (Asp299Gly and Thr399Ile) were determined in ... BeFree 12742999 Detail
<0.001 eclampsia Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr39... BeFree 20818954 Detail
0.001 Periodontal Diseases Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399... BeFree 17309585 Detail
0.003 typhoid fever Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and typhoid susceptib... BeFree 21612766 Detail
0.034 Inflammatory Bowel Diseases Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) hav... BeFree 18034244 Detail
0.012 Bacterial Infections Two single nucleotide polymorphisms (SNPs) encoding Asp299Gly and Thr399Ile subs... BeFree 17709532 Detail
0.044 Malignant neoplasm of stomach Assessment of the toll-like receptor 4 Asp299Gly, Thr399Ile and interleukin-8 -2... BeFree 17462092 Detail
0.183 Crohn Disease The TLR4 Asp299Gly and Thr399Ile polymorphisms were genotyped and tested for cas... BeFree 17850411 Detail
0.005 Malignant neoplasm of stomach Our data suggest that CD14 promoter-159TT and T carrier were associated with low... BeFree 19847953 Detail
<0.001 neuropathy Two specific polymorphisms of toll-like receptor 4 (TLR4; Asp299Gly and Thr399Il... BeFree 21628510 Detail
0.003 Hay fever Our objective was to determine the frequency of TNF-alpha -238, -308 G/A promote... BeFree 21103885 Detail
0.002 cerebral infarction This study was aimed to detect two commonly reported Asp299Gly and Thr399Ile pol... BeFree 20504212 Detail
0.560 Crohn Disease The role of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD1... BeFree 15973118 Detail
0.001 Gingival Diseases Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399... BeFree 17309585 Detail
0.183 Crohn Disease The role of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD1... BeFree 15973118 Detail
0.005 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site The aim of this study was to investigate the possible role of polymorphisms of T... BeFree 25572736 Detail
0.034 ulcerative colitis The TLR4 Asp299Gly and Thr399Ile polymorphisms were genotyped and tested for cas... BeFree 17850411 Detail
0.005 Chagas Cardiomyopathy In contrast, the heterozygous Toll-like receptor 4 (TLR4)-deficiency genotype D2... BeFree 22302853 Detail
0.002 Cirrhosis The present study aimed to investigate the association between TLR4 mutations (A... BeFree 18666712 Detail
0.005 Septicemia Our study investigated the association between TLR4 mutations (Asp299Gly and Thr... BeFree 12404174 Detail
0.025 Bacterial Infections Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are asso... BeFree 16487238 Detail
<0.001 Transient ischemic attack We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF... BeFree 16879054 Detail
0.244 Sepsis Our study investigated the association between TLR4 mutations (Asp299Gly and Thr... BeFree 12404174 Detail
0.034 ulcerative colitis The Toll-like receptor 4 D299G and T399I polymorphisms are associated with Crohn... BeFree 20093834 Detail
0.244 Sepsis Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) hav... BeFree 18034244 Detail
0.002 stomach carcinoma The association between Toll-like receptor 2 (TLR2) -196 to -174del polymorphism... BeFree 24007538 Detail
<0.001 eclampsia Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr39... BeFree 20818954 Detail
<0.001 Acute Cerebrovascular Accidents We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF... BeFree 16879054 Detail
0.124 Endotoxin Hyporesponsiveness In support of this idea, we have recently demonstrated that lung recipients hete... BeFree 15640363 Detail
<0.001 osteomyelitis Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are asso... BeFree 16487238 Detail
<0.001 Nasopharyngeal carcinoma The aim of this study was to investigate the association of TLR2 R753Q, TLR4 D29... BeFree 22320262 Detail
0.043 Sepsis Our study investigated the association between TLR4 mutations (Asp299Gly and Thr... BeFree 12404174 Detail
0.004 pneumonia Furthermore, the cosegregating TLR4 polymorphisms Asp299Gly and Thr399Ile were i... BeFree 25427560 Detail
<0.001 Pancolitis The presence of TLR-4 Asp299Gly and TLR-4 Thr399Ile polymorphisms is related to ... BeFree 22918682 Detail
0.006 duodenal ulcer TLR4/D299G/T399I polymorphisms were more frequent in duodenal ulcer and showed a... BeFree 18755634 Detail
0.001 diabetic retinopathy Two specific polymorphisms of toll-like receptor 4 (TLR4; Asp299Gly and Thr399Il... BeFree 21628510 Detail
0.010 Septicemia In conclusion, differences in distribution of TLR4 polymorphisms Asp299Gly and T... BeFree 21968286 Detail
0.007 stomach carcinoma We investigated the effects of common polymorphisms of TLR4 Asp299Gly, Thr399Ile... BeFree 19326213 Detail
0.001 Gingival Diseases Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399... BeFree 17309585 Detail
0.080 Transient ischemic attack We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF... BeFree 16879054 Detail
0.007 stomach carcinoma Assessment of the toll-like receptor 4 Asp299Gly, Thr399Ile and interleukin-8 -2... BeFree 17462092 Detail
0.203 Diabetic Neuropathies Asp299Gly and Thr399Ile genotypes of the TLR4 gene are associated with a reduced... BeFree 14693986 Detail
0.026 Lupus Erythematosus, Systemic Association of TLR4 (D299G, T399I), TLR9 -1486T&gt;C, TIRAP S180L and TNF-α prom... BeFree 25182168 Detail
0.001 Gingival Diseases Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399... BeFree 17309585 Detail
0.006 Periodontal Diseases Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399... BeFree 17309585 Detail
0.006 Periodontal Diseases Therefore, the aim of this study was to investigate the association between the ... BeFree 23879541 Detail
0.003 stomach carcinoma Our data suggest that CD14 promoter-159TT and T carrier were associated with low... BeFree 19847953 Detail
0.012 Diabetes Mellitus, Insulin-Dependent Our data indicate that Asp299Gly and Thr399Ile genotypes of the TLR4 gene are as... BeFree 14693986 Detail
<0.001 Acute Cerebrovascular Accidents We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF... BeFree 16879054 Detail
0.080 Diabetes TLR4(D299G/T399I) associates with increased total body fat, visceral fat, liver ... BeFree 21125016 Detail
<0.001 Acute Cerebrovascular Accidents We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF... BeFree 16879054 Detail
0.010 liver cirrhosis The present study aimed to investigate the association between TLR4 mutations (A... BeFree 18666712 Detail
0.034 ulcerative colitis The presence of TLR-4 Asp299Gly and TLR-4 Thr399Ile polymorphisms is related to ... BeFree 22918682 Detail
0.017 tuberculosis Lack of association between Toll-like receptor 4 gene Asp299Gly and Thr399Ile po... BeFree 23200920 Detail
0.034 ulcerative colitis Overall, no heterozygous or homozygous single nucleotide polymorphism mutations ... BeFree 23239925 Detail
0.031 periodontitis We screened 197 individuals suffering from generalized periodontitis for the pre... BeFree 15875057 Detail
0.183 Crohn Disease Toll-like receptor (TLR) polymorphisms, and especially TLR-4 Asp299Gly and TLR-4... BeFree 22918682 Detail
0.003 Fibrosis, Liver TLR4 D299G and T399I SNPs that are associated with protection from hepatic fibro... BeFree 19085953 Detail
<0.001 Liver failure The study included nine patients with cirrhosis and TLR4 D299G and/or T399I poly... BeFree 25516666 Detail
0.009 Malignant neoplasm of stomach Assessment of the toll-like receptor 4 Asp299Gly, Thr399Ile and interleukin-8 -2... BeFree 17462092 Detail
0.002 Secondary malignant neoplasm of lymph node Positive link between variant Toll-like receptor 4 (Asp299Gly and Thr399Ile) and... BeFree 23949880 Detail
0.002 Carotid Atherosclerosis A total of 3000 individuals from the prospective community-based Carotid Atheros... BeFree 17332447 Detail
<0.001 Acute Cerebrovascular Accidents We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF... BeFree 16879054 Detail
0.001 Gingival Diseases Therefore, the aim of this study was to investigate the association between the ... BeFree 23879541 Detail
0.010 Septicemia Furthermore, the cosegregating TLR4 polymorphisms Asp299Gly and Thr399Ile were i... BeFree 25427560 Detail
0.005 Sepsis Our study investigated the association between TLR4 mutations (Asp299Gly and Thr... BeFree 12404174 Detail
0.015 Diabetes Mellitus, Non-Insulin-Dependent Asp299Gly and Thr399Ile genotypes of the TLR4 gene are associated with a reduced... BeFree 14693986 Detail
0.158 atherosclerosis For this purpose we investigated the prevalence and any possible associations of... BeFree 20169003 Detail
0.002 stomach carcinoma Our data suggest that CD14 promoter-159TT and T carrier were associated with low... BeFree 19847953 Detail
0.002 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site The aim of this study was to investigate the possible role of polymorphisms of T... BeFree 25572736 Detail
0.027 rheumatoid arthritis Lack of association of TLR4 gene Asp299Gly and Thr399Ile polymorphisms with rheu... BeFree 20306049 Detail
0.121 Lupus Erythematosus, Systemic Association of TLR4 (D299G, T399I), TLR9 -1486T&gt;C, TIRAP S180L and TNF-α prom... BeFree 25182168 Detail
0.295 diabetes mellitus TLR4(D299G/T399I) associates with increased total body fat, visceral fat, liver ... BeFree 21125016 Detail
0.005 hepatitis B By use of a polymerase chain reaction-based restriction fragment length polymorp... BeFree 18666712 Detail
0.010 Septicemia Interestingly, TLR4-D299G, TLR4-T399I and BAFFR-P21R carriage was associated wit... BeFree 25454804 Detail
0.001 squamous cell carcinoma Toll-like receptor 4 single-nucleotide polymorphisms Asp299Gly and Thr399Ile in ... BeFree 21854645 Detail
0.005 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site This study genotyped 2 TLR4 mutations, Asp299Gly and Thr399Ile, and 2 single-nuc... BeFree 17471431 Detail
0.002 Malignant neoplasm of stomach Our data suggest that CD14 promoter-159TT and T carrier were associated with low... BeFree 19847953 Detail
0.009 Malignant neoplasm of stomach Our data suggest that CD14 promoter-159TT and T carrier were associated with low... BeFree 19847953 Detail
<0.001 Arthritis, Gouty None polymorphisms of Asp299Gly and Thr399Ile were detected in all GA cases and ... BeFree 23152086 Detail
0.127 liver cirrhosis The present study aimed to investigate the association between TLR4 mutations (A... BeFree 18666712 Detail
0.244 Sepsis Lack of association between TLR4 Asp299Gly and Thr399Ile polymorphisms and sepsi... BeFree 22537674 Detail
<0.001 Guillain-Barre syndrome Association of TLR4 Asp299Gly and Thr399Ile polymorphisms with Guillain-Barré sy... BeFree 19913922 Detail
0.124 Endotoxin Hyporesponsiveness NA CLINVAR Detail
0.007 stomach carcinoma The results of this meta-analysis indicate that the TLR4 Asp299Gly and Thr399Ile... BeFree 24007538 Detail
0.006 Arthritis, Reactive Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to ... BeFree 16567359 Detail
<0.001 Malignant tumor of cervix Impact of Toll-like receptors [TLR] 2 (-196 to -174 del) and TLR 4 (Asp299Gly, T... BeFree 19541348 Detail
0.009 Malignant neoplasm of stomach The results of this meta-analysis indicate that the TLR4 Asp299Gly and Thr399Ile... BeFree 24007538 Detail
<0.001 Cirrhosis The present study aimed to investigate the association between TLR4 mutations (A... BeFree 18666712 Detail
0.003 Helicobacter pylori infection To investigate toll-like receptor 2 (TLR2) -196 to -174 del, and TLR4 (+896A/G r... BeFree 22468087 Detail
0.002 Diabetes TLR4(D299G/T399I) associates with increased total body fat, visceral fat, liver ... BeFree 21125016 Detail
0.003 cervix carcinoma Impact of Toll-like receptors [TLR] 2 (-196 to -174 del) and TLR 4 (Asp299Gly, T... BeFree 19541348 Detail
0.058 asthma Role of TLR4 C&gt;1196T (Thr399Ile) and TLR4 A&gt;896G (Asp299Gly) polymorphisms... BeFree 25331070 Detail
<0.001 Acute Cerebrovascular Accidents We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF... BeFree 16879054 Detail
0.014 Periodontal Diseases Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399... BeFree 17309585 Detail
0.004 diabetes mellitus TLR4(D299G/T399I) associates with increased total body fat, visceral fat, liver ... BeFree 21125016 Detail
<0.001 Transient ischemic attack We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF... BeFree 16879054 Detail
0.002 Helicobacter pylori infection To investigate toll-like receptor 2 (TLR2) -196 to -174 del, and TLR4 (+896A/G r... BeFree 22468087 Detail
0.008 colorectal cancer Positive link between variant Toll-like receptor 4 (Asp299Gly and Thr399Ile) and... BeFree 23949880 Detail
0.031 periodontitis The prevalence of TLR2 Arp677Trp polymorphism seemed to be rather high, while th... BeFree 18618036 Detail
0.002 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site The aim of this study was to investigate the possible role of polymorphisms of T... BeFree 25572736 Detail
0.006 Virus Diseases Polymorphisms of the toll-like receptor (TLR) 2 (Arg677Trp, Arg753Gln) and TLR4 ... BeFree 21443084 Detail
0.002 Carotid Atherosclerosis The presence of the D299G and T399I polymorphisms of the TLR-4 gene does not pla... BeFree 15953129 Detail
0.005 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site TLR4 Asp299Gly and Thr399Ile polymorphisms: no impact on human immune responsive... BeFree 20711470 Detail
0.011 urinary tract infection In this study, we aimed to determine the relation of TLR-4 Asp299Gly and Thr399I... BeFree 23612767 Detail
0.244 Sepsis Interestingly, TLR4-D299G, TLR4-T399I and BAFFR-P21R carriage was associated wit... BeFree 25454804 Detail
0.007 stomach carcinoma Our data suggest that CD14 promoter-159TT and T carrier were associated with low... BeFree 19847953 Detail
0.010 Septicemia Lack of association between TLR4 Asp299Gly and Thr399Ile polymorphisms and sepsi... BeFree 22537674 Detail
0.003 Cirrhosis The present study aimed to investigate the association between TLR4 mutations (A... BeFree 18666712 Detail
<0.001 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma Genotyping for CD14 (-159C/T) and TLR4 (Asp 299Gly and Thr 399Ile) was performed... BeFree 17086894 Detail
0.007 stomach carcinoma Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms in gastric cancer of ... BeFree 18826495 Detail
0.005 Mycoses The patient was in complete hematologic remission and molecular analyses did not... BeFree 17885950 Detail
0.017 periodontitis The prevalence of TLR2 Arp677Trp polymorphism seemed to be rather high, while th... BeFree 18618036 Detail
0.009 Malignant neoplasm of stomach We investigated the effects of common polymorphisms of TLR4 Asp299Gly, Thr399Ile... BeFree 19326213 Detail
<0.001 Sepsis Interestingly, TLR4-D299G, TLR4-T399I and BAFFR-P21R carriage was associated wit... BeFree 25454804 Detail
0.010 ankylosing spondylitis Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to ... BeFree 16567359 Detail
0.003 epilepsy A total of 140 patients with NCC (82 symptomatic [ie, with active epilepsy] and ... BeFree 20807077 Detail
0.001 Malignant tumor of cervix Impact of Toll-like receptors [TLR] 2 (-196 to -174 del) and TLR 4 (Asp299Gly, T... BeFree 19541348 Detail
0.244 Sepsis Furthermore, the cosegregating TLR4 polymorphisms Asp299Gly and Thr399Ile were i... BeFree 25427560 Detail
0.009 Malignant neoplasm of stomach Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms in gastric cancer of ... BeFree 18826495 Detail
0.007 stomach carcinoma TLR4/D299G/T399I polymorphisms were more frequent in duodenal ulcer and showed a... BeFree 18755634 Detail
<0.001 Septicemia Interestingly, TLR4-D299G, TLR4-T399I and BAFFR-P21R carriage was associated wit... BeFree 25454804 Detail
0.006 Mucosa-Associated Lymphoid Tissue Lymphoma Genotyping for CD14 (-159C/T) and TLR4 (Asp 299Gly and Thr 399Ile) was performed... BeFree 17086894 Detail
0.003 Lupus Erythematosus, Systemic Association of TLR4 (D299G, T399I), TLR9 -1486T&gt;C, TIRAP S180L and TNF-α prom... BeFree 25182168 Detail
0.002 Malignant neoplasm of stomach The association between Toll-like receptor 2 (TLR2) -196 to -174del polymorphism... BeFree 24007538 Detail
0.012 Tuberculosis, Pulmonary Human Toll-like receptor 4 polymorphisms TLR4 Asp299Gly and Thr399Ile influence ... BeFree 20403143 Detail
0.005 Mycoses For fungi, a significant association was observed between the presence of the co... BeFree 19539691 Detail
0.002 liver cirrhosis The present study aimed to investigate the association between TLR4 mutations (A... BeFree 18666712 Detail
0.002 Cerebrovascular accident This study was aimed to detect two commonly reported Asp299Gly and Thr399Ile pol... BeFree 20504212 Detail
0.013 arteriosclerosis For this purpose we investigated the prevalence and any possible associations of... BeFree 20169003 Detail
<0.001 Gram-negative bacteremia Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) hav... BeFree 18034244 Detail
0.244 Sepsis In conclusion, differences in distribution of TLR4 polymorphisms Asp299Gly and T... BeFree 21968286 Detail
<0.001 Pneumonitis Furthermore, the cosegregating TLR4 polymorphisms Asp299Gly and Thr399Ile were i... BeFree 25427560 Detail
0.004 cervix carcinoma Impact of Toll-like receptors [TLR] 2 (-196 to -174 del) and TLR 4 (Asp299Gly, T... BeFree 19541348 Detail
<0.001 PHOTOPAROXYSMAL RESPONSE 1 TLR 4 T399I and TLR9 -1486 T&gt;C showed a positive association with seizures an... BeFree 25182168 Detail
<0.001 PHOTOPAROXYSMAL RESPONSE 1 TLR 4 T399I and TLR9 -1486 T&gt;C showed a positive association with seizures an... BeFree 25182168 Detail
<0.001 GASTRIC CANCER, INTESTINAL An increased risk for intestinal gastric cancer in carriers of the TLR4 Thr399Il... BeFree 18826495 Detail
0.027 rheumatoid arthritis The presence of anti-LPS antibodies and human serum activity against Proteus mir... BeFree 22749779 Detail
0.002 Acute GVH disease Mutations in innate immune system NOD2/CARD 15 and TLR-4 (Thr399Ile) genes influ... BeFree 16436969 Detail
0.001 Seizures TLR 4 T399I and TLR9 -1486 T&gt;C showed a positive association with seizures an... BeFree 25182168 Detail
<0.001 Seizures TLR 4 T399I and TLR9 -1486 T&gt;C showed a positive association with seizures an... BeFree 25182168 Detail
0.009 Chronic Obstructive Airway Disease Association of TLR4-T399I polymorphism with chronic obstructive pulmonary diseas... BeFree 20169003 Detail
<0.001 depressive disorder As seizures and depression are well known neuropsychiatric syndromes in systemic... BeFree 24243911 Detail
0.007 arthritis In the Polish population of SLE patients, 1196C/T polymorphism of TLR4 gene does... BeFree 24243911 Detail
<0.001 Osteoporosis, Postmenopausal Toll-Like Receptor 4 Gene Polymorphism C1196T in Polish Women with Postmenopausa... BeFree 25931355 Detail
0.001 Seizures As seizures and depression are well known neuropsychiatric syndromes in systemic... BeFree 24243911 Detail
<0.001 Acute GVH disease Mutations in innate immune system NOD2/CARD 15 and TLR-4 (Thr399Ile) genes influ... BeFree 16436969 Detail
<0.001 Nasopharyngeal carcinoma Our data suggest that TLR4 T399I modify cytokines and chemokines patterns and pl... BeFree 22320262 Detail
0.003 Lupus Erythematosus, Systemic In the Polish population of SLE patients, 1196C/T polymorphism of TLR4 gene does... BeFree 24243911 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile) AND TLR4 POLYMORPHISM ClinVar Detail
NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile) AND not provided ClinVar Detail
NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile) AND COPD, severe early onset ClinVar Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and the TLR4 gene (Asp2... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and the TLR4 gene (Asp2... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In our study, TNF-alpha, soluble TNF receptor 1 (sTNFR1), and soluble TNF receptor 2 (sTNFR2) levels... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD15 (R702W, G908R, and... DisGeNET Detail
We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD15 (R702W, G908R, and... DisGeNET Detail
To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative c... DisGeNET Detail
To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative c... DisGeNET Detail
To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative c... DisGeNET Detail
We examined the association between candidate disease-susceptibility polymorphisms in the single nuc... DisGeNET Detail
We examined the association between candidate disease-susceptibility polymorphisms in the single nuc... DisGeNET Detail
We examined the association between candidate disease-susceptibility polymorphisms in the single nuc... DisGeNET Detail
We examined the association between candidate disease-susceptibility polymorphisms in the single nuc... DisGeNET Detail
The tlr-4 (D299G and T399I), tlr-9 (T-1486C and T-1237C) and tirap (S180L) genes were assessed in 64... DisGeNET Detail
The tlr-4 (D299G and T399I), tlr-9 (T-1486C and T-1237C) and tirap (S180L) genes were assessed in 64... DisGeNET Detail
Lack of genetic association of the Toll-like receptor 4 (TLR4) Asp299Gly and Thr399Ile polymorphisms... DisGeNET Detail
Assessment of the toll-like receptor 4 Asp299Gly, Thr399Ile and interleukin-8 -251 polymorphisms in ... DisGeNET Detail
Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) have been shown to be a... DisGeNET Detail
Our study investigated the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 pol... DisGeNET Detail
Toll-like receptor 4 gene Asp299Gly and Thr399Ile polymorphisms in type 2 diabetes mellitus: a meta-... DisGeNET Detail
A total of 3000 individuals from the prospective community-based Carotid Atherosclerosis Progression... DisGeNET Detail
We screened 197 individuals suffering from generalized periodontitis for the presence of Asp299Gly a... DisGeNET Detail
We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF-alpha) G(-376)A, G(... DisGeNET Detail
Determination of the TLR4 Asp299Gly/Thr399Ile haplotype is of no clinical benefit in predicting the ... DisGeNET Detail
The Toll-like receptor 4 D299G and T399I polymorphisms are associated with Crohn's disease and ulcer... DisGeNET Detail
We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF-alpha) G(-376)A, G(... DisGeNET Detail
TLR4/D299G/T399I polymorphisms were more frequent in duodenal ulcer and showed a trend in gastric ca... DisGeNET Detail
Positive link between variant Toll-like receptor 4 (Asp299Gly and Thr399Ile) and colorectal cancer p... DisGeNET Detail
Our study investigated the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 pol... DisGeNET Detail
Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are associated with bacteria... DisGeNET Detail
Two polymorphisms of the TLR4 gene (Asp299Gly and Thr399Ile) were determined in 655 men with angiogr... DisGeNET Detail
Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr399Ile) genes were scr... DisGeNET Detail
Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399Ile and the CD14 SNP... DisGeNET Detail
Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and typhoid susceptibility in Asian Malay... DisGeNET Detail
Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) have been shown to be a... DisGeNET Detail
Two single nucleotide polymorphisms (SNPs) encoding Asp299Gly and Thr399Ile substitutions in the TLR... DisGeNET Detail
Assessment of the toll-like receptor 4 Asp299Gly, Thr399Ile and interleukin-8 -251 polymorphisms in ... DisGeNET Detail
The TLR4 Asp299Gly and Thr399Ile polymorphisms were genotyped and tested for case-control frequency ... DisGeNET Detail
Our data suggest that CD14 promoter-159TT and T carrier were associated with lower risk of developin... DisGeNET Detail
Two specific polymorphisms of toll-like receptor 4 (TLR4; Asp299Gly and Thr399Ile) have recently bee... DisGeNET Detail
Our objective was to determine the frequency of TNF-alpha -238, -308 G/A promoter and TLR-4 299 D/G ... DisGeNET Detail
This study was aimed to detect two commonly reported Asp299Gly and Thr399Ile polymorphisms in TLR4 g... DisGeNET Detail
The role of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD15/NOD2 mutations in ... DisGeNET Detail
Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399Ile and the CD14 SNP... DisGeNET Detail
The role of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD15/NOD2 mutations in ... DisGeNET Detail
The aim of this study was to investigate the possible role of polymorphisms of TLR4, Asp299Gly and T... DisGeNET Detail
The TLR4 Asp299Gly and Thr399Ile polymorphisms were genotyped and tested for case-control frequency ... DisGeNET Detail
In contrast, the heterozygous Toll-like receptor 4 (TLR4)-deficiency genotype D299G/T399I occurred m... DisGeNET Detail
The present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399I... DisGeNET Detail
Our study investigated the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 pol... DisGeNET Detail
Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are associated with bacteria... DisGeNET Detail
We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF-alpha) G(-376)A, G(... DisGeNET Detail
Our study investigated the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 pol... DisGeNET Detail
The Toll-like receptor 4 D299G and T399I polymorphisms are associated with Crohn's disease and ulcer... DisGeNET Detail
Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) have been shown to be a... DisGeNET Detail
The association between Toll-like receptor 2 (TLR2) -196 to -174del polymorphism and Toll-like recep... DisGeNET Detail
Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr399Ile) genes were scr... DisGeNET Detail
We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF-alpha) G(-376)A, G(... DisGeNET Detail
In support of this idea, we have recently demonstrated that lung recipients heterozygous for either ... DisGeNET Detail
Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are associated with bacteria... DisGeNET Detail
The aim of this study was to investigate the association of TLR2 R753Q, TLR4 D299G, and T399I polymo... DisGeNET Detail
Our study investigated the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 pol... DisGeNET Detail
Furthermore, the cosegregating TLR4 polymorphisms Asp299Gly and Thr399Ile were independent risk fact... DisGeNET Detail
The presence of TLR-4 Asp299Gly and TLR-4 Thr399Ile polymorphisms is related to UC pancolitis, invol... DisGeNET Detail
TLR4/D299G/T399I polymorphisms were more frequent in duodenal ulcer and showed a trend in gastric ca... DisGeNET Detail
Two specific polymorphisms of toll-like receptor 4 (TLR4; Asp299Gly and Thr399Ile) have recently bee... DisGeNET Detail
In conclusion, differences in distribution of TLR4 polymorphisms Asp299Gly and Thr399Ile in European... DisGeNET Detail
We investigated the effects of common polymorphisms of TLR4 Asp299Gly, Thr399Ile, and CD14 promoter-... DisGeNET Detail
Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399Ile and the CD14 SNP... DisGeNET Detail
We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF-alpha) G(-376)A, G(... DisGeNET Detail
Assessment of the toll-like receptor 4 Asp299Gly, Thr399Ile and interleukin-8 -251 polymorphisms in ... DisGeNET Detail
Asp299Gly and Thr399Ile genotypes of the TLR4 gene are associated with a reduced prevalence of diabe... DisGeNET Detail
Association of TLR4 (D299G, T399I), TLR9 -1486T&gt;C, TIRAP S180L and TNF-α promoter (-1031, -863, -... DisGeNET Detail
Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399Ile and the CD14 SNP... DisGeNET Detail
Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399Ile and the CD14 SNP... DisGeNET Detail
Therefore, the aim of this study was to investigate the association between the TLR4 Asp299Gly and T... DisGeNET Detail
Our data suggest that CD14 promoter-159TT and T carrier were associated with lower risk of developin... DisGeNET Detail
Our data indicate that Asp299Gly and Thr399Ile genotypes of the TLR4 gene are associated with reduce... DisGeNET Detail
We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF-alpha) G(-376)A, G(... DisGeNET Detail
TLR4(D299G/T399I) associates with increased total body fat, visceral fat, liver fat and decreased in... DisGeNET Detail
We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF-alpha) G(-376)A, G(... DisGeNET Detail
The present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399I... DisGeNET Detail
The presence of TLR-4 Asp299Gly and TLR-4 Thr399Ile polymorphisms is related to UC pancolitis, invol... DisGeNET Detail
Lack of association between Toll-like receptor 4 gene Asp299Gly and Thr399Ile polymorphisms and tube... DisGeNET Detail
Overall, no heterozygous or homozygous single nucleotide polymorphism mutations were found in patien... DisGeNET Detail
We screened 197 individuals suffering from generalized periodontitis for the presence of Asp299Gly a... DisGeNET Detail
Toll-like receptor (TLR) polymorphisms, and especially TLR-4 Asp299Gly and TLR-4 Thr399Ile, have bee... DisGeNET Detail
TLR4 D299G and T399I SNPs that are associated with protection from hepatic fibrosis reduce TLR4-medi... DisGeNET Detail
The study included nine patients with cirrhosis and TLR4 D299G and/or T399I polymorphisms, and 10 wi... DisGeNET Detail
Assessment of the toll-like receptor 4 Asp299Gly, Thr399Ile and interleukin-8 -251 polymorphisms in ... DisGeNET Detail
Positive link between variant Toll-like receptor 4 (Asp299Gly and Thr399Ile) and colorectal cancer p... DisGeNET Detail
A total of 3000 individuals from the prospective community-based Carotid Atherosclerosis Progression... DisGeNET Detail
We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF-alpha) G(-376)A, G(... DisGeNET Detail
Therefore, the aim of this study was to investigate the association between the TLR4 Asp299Gly and T... DisGeNET Detail
Furthermore, the cosegregating TLR4 polymorphisms Asp299Gly and Thr399Ile were independent risk fact... DisGeNET Detail
Our study investigated the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 pol... DisGeNET Detail
Asp299Gly and Thr399Ile genotypes of the TLR4 gene are associated with a reduced prevalence of diabe... DisGeNET Detail
For this purpose we investigated the prevalence and any possible associations of common TLR polymorp... DisGeNET Detail
Our data suggest that CD14 promoter-159TT and T carrier were associated with lower risk of developin... DisGeNET Detail
The aim of this study was to investigate the possible role of polymorphisms of TLR4, Asp299Gly and T... DisGeNET Detail
Lack of association of TLR4 gene Asp299Gly and Thr399Ile polymorphisms with rheumatoid arthritis in ... DisGeNET Detail
Association of TLR4 (D299G, T399I), TLR9 -1486T&gt;C, TIRAP S180L and TNF-α promoter (-1031, -863, -... DisGeNET Detail
TLR4(D299G/T399I) associates with increased total body fat, visceral fat, liver fat and decreased in... DisGeNET Detail
By use of a polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) anal... DisGeNET Detail
Interestingly, TLR4-D299G, TLR4-T399I and BAFFR-P21R carriage was associated with a lower risk of IC... DisGeNET Detail
Toll-like receptor 4 single-nucleotide polymorphisms Asp299Gly and Thr399Ile in head and neck squamo... DisGeNET Detail
This study genotyped 2 TLR4 mutations, Asp299Gly and Thr399Ile, and 2 single-nucleotide polymorphism... DisGeNET Detail
Our data suggest that CD14 promoter-159TT and T carrier were associated with lower risk of developin... DisGeNET Detail
Our data suggest that CD14 promoter-159TT and T carrier were associated with lower risk of developin... DisGeNET Detail
None polymorphisms of Asp299Gly and Thr399Ile were detected in all GA cases and controls, which indi... DisGeNET Detail
The present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399I... DisGeNET Detail
Lack of association between TLR4 Asp299Gly and Thr399Ile polymorphisms and sepsis susceptibility: a ... DisGeNET Detail
Association of TLR4 Asp299Gly and Thr399Ile polymorphisms with Guillain-Barré syndrome in Northern I... DisGeNET Detail
NA DisGeNET Detail
The results of this meta-analysis indicate that the TLR4 Asp299Gly and Thr399Ile polymorphisms are r... DisGeNET Detail
Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibili... DisGeNET Detail
Impact of Toll-like receptors [TLR] 2 (-196 to -174 del) and TLR 4 (Asp299Gly, Thr399Ile) in cervica... DisGeNET Detail
The results of this meta-analysis indicate that the TLR4 Asp299Gly and Thr399Ile polymorphisms are r... DisGeNET Detail
The present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399I... DisGeNET Detail
To investigate toll-like receptor 2 (TLR2) -196 to -174 del, and TLR4 (+896A/G rs4986790 and +1196C/... DisGeNET Detail
TLR4(D299G/T399I) associates with increased total body fat, visceral fat, liver fat and decreased in... DisGeNET Detail
Impact of Toll-like receptors [TLR] 2 (-196 to -174 del) and TLR 4 (Asp299Gly, Thr399Ile) in cervica... DisGeNET Detail
Role of TLR4 C&gt;1196T (Thr399Ile) and TLR4 A&gt;896G (Asp299Gly) polymorphisms in a North Indian p... DisGeNET Detail
We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF-alpha) G(-376)A, G(... DisGeNET Detail
Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399Ile and the CD14 SNP... DisGeNET Detail
TLR4(D299G/T399I) associates with increased total body fat, visceral fat, liver fat and decreased in... DisGeNET Detail
We determined the frequency of polymorphisms in tumor necrosis factor-alpha[(TNF-alpha) G(-376)A, G(... DisGeNET Detail
To investigate toll-like receptor 2 (TLR2) -196 to -174 del, and TLR4 (+896A/G rs4986790 and +1196C/... DisGeNET Detail
Positive link between variant Toll-like receptor 4 (Asp299Gly and Thr399Ile) and colorectal cancer p... DisGeNET Detail
The prevalence of TLR2 Arp677Trp polymorphism seemed to be rather high, while that of TLR4 Asp299Gly... DisGeNET Detail
The aim of this study was to investigate the possible role of polymorphisms of TLR4, Asp299Gly and T... DisGeNET Detail
Polymorphisms of the toll-like receptor (TLR) 2 (Arg677Trp, Arg753Gln) and TLR4 (Asp299Gly, Thr399Il... DisGeNET Detail
The presence of the D299G and T399I polymorphisms of the TLR-4 gene does not play a major role on th... DisGeNET Detail
TLR4 Asp299Gly and Thr399Ile polymorphisms: no impact on human immune responsiveness to LPS or respi... DisGeNET Detail
In this study, we aimed to determine the relation of TLR-4 Asp299Gly and Thr399Ile polymorphisms and... DisGeNET Detail
Interestingly, TLR4-D299G, TLR4-T399I and BAFFR-P21R carriage was associated with a lower risk of IC... DisGeNET Detail
Our data suggest that CD14 promoter-159TT and T carrier were associated with lower risk of developin... DisGeNET Detail
Lack of association between TLR4 Asp299Gly and Thr399Ile polymorphisms and sepsis susceptibility: a ... DisGeNET Detail
The present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399I... DisGeNET Detail
Genotyping for CD14 (-159C/T) and TLR4 (Asp 299Gly and Thr 399Ile) was performed in 70 patients with... DisGeNET Detail
Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms in gastric cancer of intestinal and diffu... DisGeNET Detail
The patient was in complete hematologic remission and molecular analyses did not display the presenc... DisGeNET Detail
The prevalence of TLR2 Arp677Trp polymorphism seemed to be rather high, while that of TLR4 Asp299Gly... DisGeNET Detail
We investigated the effects of common polymorphisms of TLR4 Asp299Gly, Thr399Ile, and CD14 promoter-... DisGeNET Detail
Interestingly, TLR4-D299G, TLR4-T399I and BAFFR-P21R carriage was associated with a lower risk of IC... DisGeNET Detail
Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibili... DisGeNET Detail
A total of 140 patients with NCC (82 symptomatic [ie, with active epilepsy] and 58 asymptomatic) and... DisGeNET Detail
Impact of Toll-like receptors [TLR] 2 (-196 to -174 del) and TLR 4 (Asp299Gly, Thr399Ile) in cervica... DisGeNET Detail
Furthermore, the cosegregating TLR4 polymorphisms Asp299Gly and Thr399Ile were independent risk fact... DisGeNET Detail
Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms in gastric cancer of intestinal and diffu... DisGeNET Detail
TLR4/D299G/T399I polymorphisms were more frequent in duodenal ulcer and showed a trend in gastric ca... DisGeNET Detail
Interestingly, TLR4-D299G, TLR4-T399I and BAFFR-P21R carriage was associated with a lower risk of IC... DisGeNET Detail
Genotyping for CD14 (-159C/T) and TLR4 (Asp 299Gly and Thr 399Ile) was performed in 70 patients with... DisGeNET Detail
Association of TLR4 (D299G, T399I), TLR9 -1486T&gt;C, TIRAP S180L and TNF-α promoter (-1031, -863, -... DisGeNET Detail
The association between Toll-like receptor 2 (TLR2) -196 to -174del polymorphism and Toll-like recep... DisGeNET Detail
Human Toll-like receptor 4 polymorphisms TLR4 Asp299Gly and Thr399Ile influence susceptibility and s... DisGeNET Detail
For fungi, a significant association was observed between the presence of the cosegregating Asp299Gl... DisGeNET Detail
The present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399I... DisGeNET Detail
This study was aimed to detect two commonly reported Asp299Gly and Thr399Ile polymorphisms in TLR4 g... DisGeNET Detail
For this purpose we investigated the prevalence and any possible associations of common TLR polymorp... DisGeNET Detail
Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) have been shown to be a... DisGeNET Detail
In conclusion, differences in distribution of TLR4 polymorphisms Asp299Gly and Thr399Ile in European... DisGeNET Detail
Furthermore, the cosegregating TLR4 polymorphisms Asp299Gly and Thr399Ile were independent risk fact... DisGeNET Detail
Impact of Toll-like receptors [TLR] 2 (-196 to -174 del) and TLR 4 (Asp299Gly, Thr399Ile) in cervica... DisGeNET Detail
TLR 4 T399I and TLR9 -1486 T&gt;C showed a positive association with seizures and photosensitivity, ... DisGeNET Detail
TLR 4 T399I and TLR9 -1486 T&gt;C showed a positive association with seizures and photosensitivity, ... DisGeNET Detail
An increased risk for intestinal gastric cancer in carriers of the TLR4 Thr399Ile allele was observe... DisGeNET Detail
The presence of anti-LPS antibodies and human serum activity against Proteus mirabilis S/R forms in ... DisGeNET Detail
Mutations in innate immune system NOD2/CARD 15 and TLR-4 (Thr399Ile) genes influence the risk for se... DisGeNET Detail
TLR 4 T399I and TLR9 -1486 T&gt;C showed a positive association with seizures and photosensitivity, ... DisGeNET Detail
TLR 4 T399I and TLR9 -1486 T&gt;C showed a positive association with seizures and photosensitivity, ... DisGeNET Detail
Association of TLR4-T399I polymorphism with chronic obstructive pulmonary disease in smokers. DisGeNET Detail
As seizures and depression are well known neuropsychiatric syndromes in systemic lupus erythematosus... DisGeNET Detail
In the Polish population of SLE patients, 1196C/T polymorphism of TLR4 gene does not increase the ri... DisGeNET Detail
Toll-Like Receptor 4 Gene Polymorphism C1196T in Polish Women with Postmenopausal Osteoporosis - Pre... DisGeNET Detail
As seizures and depression are well known neuropsychiatric syndromes in systemic lupus erythematosus... DisGeNET Detail
Mutations in innate immune system NOD2/CARD 15 and TLR-4 (Thr399Ile) genes influence the risk for se... DisGeNET Detail
Our data suggest that TLR4 T399I modify cytokines and chemokines patterns and play a role in the dev... DisGeNET Detail
In the Polish population of SLE patients, 1196C/T polymorphism of TLR4 gene does not increase the ri... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4986791 dbSNP
Genome
hg38
Position
chr9:117,713,324-117,713,324
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
106.07
Standard deviation of sample read depth (HGVD)
47.15
Number of reference allele (HGVD)
2418
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.264462809917355E-4
Gene Symbol (HGVD)
TLR4
East Asian Chromosome Counts (ExAC)
8602
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.4875610323180655E-4
Chromosome Counts in All Race (ExAC)
120758
Allele Counts in All Race (ExAC)
6671
Heterozygous Counts in All Race (ExAC)
6177
Homozygous Counts in All Race (ExAC)
247
Allele Frequency in All Race (ExAC)
0.05524271683863595
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