chr3:52260782:A>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr3:52,260,782-52,260,782
hg38 chr3:52,226,766-52,226,766 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.002
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
0.098 Lupus Erythematosus, Systemic We suggest that TLR7 rs179008 and TLR9 rs5743836 can be considered SLE susceptib... BeFree 22065095 Detail
0.026 Lupus Erythematosus, Systemic We suggest that TLR7 rs179008 and TLR9 rs5743836 can be considered SLE susceptib... BeFree 22065095 Detail
0.340 Inflammatory Bowel Diseases The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
0.133 Inflammatory Bowel Diseases The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
0.020 ulcerative colitis The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
0.157 Inflammatory Bowel Diseases The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
<0.001 Inflammatory Bowel Diseases The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
0.173 Inflammatory Bowel Diseases The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
0.007 ulcerative colitis The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 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 Experimental Autoimmune Encephalomyelitis As TLR9-null mice showed increased resistance to experimental autoimmune encepha... BeFree 18208876 Detail
0.005 Aspergillosis, Allergic Bronchopulmonary Susceptibility to allergic bronchopulmonary aspergillosis was associated with al... BeFree 18275280 Detail
0.020 asthma Recently, a possible association of TLR9 polymorphism C-1237T with asthma has be... BeFree 16164440 Detail
<0.001 Lymphoma, Large-Cell, Follicular Moreover, the increased transcriptional activity of TLR9 in mononuclear cells fr... BeFree 21866115 Detail
<0.001 Acute malaria To further delineate the impacts of FcγRIIIA and TLR9 in SMA pathogenesis, the a... BeFree 23045477 Detail
0.002 Degenerative polyarthritis Our data demonstrated a lack of association among TLR-2, TLR-4, and TLR-9 (T-123... BeFree 21748790 Detail
<0.001 kidney failure In vitro studies demonstrate that -1237T/C may be involved in the development of... BeFree 23472199 Detail
0.002 Autoimmune Diseases As TLR9-null mice showed increased resistance to experimental autoimmune encepha... BeFree 18208876 Detail
0.006 Malignant neoplasm of lung [When numeric scores were assigned to both the SNP and demographic data, and seq... GAD 19789190 Detail
<0.001 Kidney Failure, Chronic Role of the functional Toll-Like receptor-9 promoter polymorphism (-1237T/C) in ... BeFree 23472199 Detail
<0.001 Latent Tuberculosis The TC genotype frequency of SNP rs5743836 in TLR9 was significantly higher in t... BeFree 25928077 Detail
<0.001 Precancerous Conditions Collectively, these findings confirm that the TLR9 -1237T/C polymorphism is a ri... BeFree 20038537 Detail
0.003 Cytomegalovirus Infections [The presence of the rs5743836 polymorphism was significantly associated with s... GAD 19539691 Detail
<0.001 allergic asthma A well-documented single nucleotide polymorphism (SNP) within the TLR9 promoter ... BeFree 20038537 Detail
<0.001 Lymphoma, Non-Hodgkin The rs5743836 polymorphism in TLR9 confers a population-based increased risk of ... BeFree 21866115 Detail
<0.001 Pneumonia, Viral A significant association was observed between the presence of the T-1237C polym... BeFree 19539691 Detail
<0.001 Chronic kidney disease stage 5 Role of the functional Toll-Like receptor-9 promoter polymorphism (-1237T/C) in ... BeFree 23472199 Detail
Annotation

Annotations

DescrptionSourceLinks
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 suggest that TLR7 rs179008 and TLR9 rs5743836 can be considered SLE susceptibility factors for wo... DisGeNET Detail
We suggest that TLR7 rs179008 and TLR9 rs5743836 can be considered SLE susceptibility factors for wo... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... 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
As TLR9-null mice showed increased resistance to experimental autoimmune encephalomyelitis and recen... DisGeNET Detail
Susceptibility to allergic bronchopulmonary aspergillosis was associated with allele C on T-1237C (T... DisGeNET Detail
Recently, a possible association of TLR9 polymorphism C-1237T with asthma has been reported. DisGeNET Detail
Moreover, the increased transcriptional activity of TLR9 in mononuclear cells from patients harborin... DisGeNET Detail
To further delineate the impacts of FcγRIIIA and TLR9 in SMA pathogenesis, the associations between ... DisGeNET Detail
Our data demonstrated a lack of association among TLR-2, TLR-4, and TLR-9 (T-1237C) polymorphisms an... DisGeNET Detail
In vitro studies demonstrate that -1237T/C may be involved in the development of ESRD through transc... DisGeNET Detail
As TLR9-null mice showed increased resistance to experimental autoimmune encephalomyelitis and recen... DisGeNET Detail
[When numeric scores were assigned to both the SNP and demographic data, and sequentially combined b... DisGeNET Detail
Role of the functional Toll-Like receptor-9 promoter polymorphism (-1237T/C) in increased risk of en... DisGeNET Detail
The TC genotype frequency of SNP rs5743836 in TLR9 was significantly higher in the LTBI group than i... DisGeNET Detail
Collectively, these findings confirm that the TLR9 -1237T/C polymorphism is a risk factor for the de... DisGeNET Detail
[The presence of the rs5743836 polymorphism was significantly associated with susceptibility to cyt... DisGeNET Detail
A well-documented single nucleotide polymorphism (SNP) within the TLR9 promoter (TLR9 -1237T/C), is ... DisGeNET Detail
The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma... DisGeNET Detail
A significant association was observed between the presence of the T-1237C polymorphism (TLR9) and s... DisGeNET Detail
Role of the functional Toll-Like receptor-9 promoter polymorphism (-1237T/C) in increased risk of en... DisGeNET Detail
Gene
-
dbSNP
rs5743836 dbSNP
Genome
hg19
Position
chr3:52,260,782-52,260,782
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs5743836
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0024
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
40
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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