chr4:154624656:T>C Detail (hg19) (TLR2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:154,624,656-154,624,656 |
hg38 | chr4:153,703,504-153,703,504 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001318787.1:c.597T>C | NP_001305716.1:p.Asn199= |
NM_001318789.1:c.597T>C | NP_001305718.1:p.Asn199= | |
NM_001318790.1:c.597T>C | NP_001305719.1:p.Asn199= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.321 |
ToMMo:0.313 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.294 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-10-16 | criteria provided, single submitter | TLR2-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.015 | Tuberculosis, Pulmonary | Our data suggest that 597T/C polymorphism, but not Arg677Trp polymorphism, of th... | BeFree | 23830055 | Detail |
0.016 | HIV Infections | TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time sin... | BeFree | 24325963 | Detail |
0.010 | HIV Infections | TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time sin... | BeFree | 24325963 | Detail |
0.003 | Sepsis | Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G... | BeFree | 20463618 | Detail |
0.001 | Septicemia | Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G... | BeFree | 20463618 | Detail |
0.005 | Septicemia | Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G... | BeFree | 20463618 | Detail |
0.100 | Sepsis | Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G... | BeFree | 20463618 | Detail |
<0.001 | Tuberculosis, Miliary | These results demonstrate a strong association of TLR2 SNP T597C with the develo... | BeFree | 17554342 | Detail |
0.051 | tuberculosis | These results demonstrate a strong association of TLR2 SNP T597C with the develo... | BeFree | 17554342 | Detail |
<0.001 | Sexual abuse | The negative effects of childhood sexual abuse on age at onset of BD may be ampl... | BeFree | 25790282 | Detail |
<0.001 | acute pyelonephritis | Further genotype pattern frequency analysis in TLR-2 SNPs (rs3804099 and rs38041... | BeFree | 23484049 | Detail |
<0.001 | Vesico-Ureteral Reflux | Further genotype pattern frequency analysis in TLR-2 SNPs (rs3804099 and rs38041... | BeFree | 23484049 | Detail |
0.051 | tuberculosis | We also found that individuals with the C allele of TLR-2 T597C allele were more... | BeFree | 18369480 | Detail |
0.009 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.033 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.008 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.005 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.010 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.003 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.098 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.012 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.183 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.422 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.003 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.131 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
<0.001 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.008 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.004 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
<0.001 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.034 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.144 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
<0.001 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.008 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.130 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.187 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.012 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.004 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.131 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
<0.001 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.009 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001318789.2(TLR2):c.597T>C (p.Asn199=) AND TLR2-related disorder | ClinVar | Detail |
Our data suggest that 597T/C polymorphism, but not Arg677Trp polymorphism, of the TLR-2 gene is a ri... | DisGeNET | Detail |
TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time since HIV-1 acquisition... | DisGeNET | Detail |
TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time since HIV-1 acquisition... | DisGeNET | Detail |
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes... | DisGeNET | Detail |
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes... | DisGeNET | Detail |
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes... | DisGeNET | Detail |
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes... | DisGeNET | Detail |
These results demonstrate a strong association of TLR2 SNP T597C with the development of TBM and mil... | DisGeNET | Detail |
These results demonstrate a strong association of TLR2 SNP T597C with the development of TBM and mil... | DisGeNET | Detail |
The negative effects of childhood sexual abuse on age at onset of BD may be amplified in TLR2 rs3804... | DisGeNET | Detail |
Further genotype pattern frequency analysis in TLR-2 SNPs (rs3804099 and rs3804100) showed significa... | DisGeNET | Detail |
Further genotype pattern frequency analysis in TLR-2 SNPs (rs3804099 and rs3804100) showed significa... | DisGeNET | Detail |
We also found that individuals with the C allele of TLR-2 T597C allele were more likely to have tube... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | 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
- -
- Genome
- hg19
- Position
- chr4:154,624,656-154,624,656
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 100.06
- Standard deviation of sample read depth (HGVD)
- 44.69
- Number of reference allele (HGVD)
- 1643
- Number of alternative allele (HGVD)
- 777
- Allele Frequency (HGVD)
- 0.3210743801652893
- Gene Symbol (HGVD)
- TLR2
- 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))
- rs3804099
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3131
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5248
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 2542
- East Asian Heterozygous Counts (ExAC)
- 1790
- East Asian Homozygous Counts (ExAC)
- 376
- East Asian Allele Frequency (ExAC)
- 0.29414487387178895
- Chromosome Counts in All Race (ExAC)
- 121290
- Allele Counts in All Race (ExAC)
- 49886
- Heterozygous Counts in All Race (ExAC)
- 28338
- Homozygous Counts in All Race (ExAC)
- 10774
- Allele Frequency in All Race (ExAC)
- 0.4112952428064968
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