chr4:38830350:A>G Detail (hg19) (TLR6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:38,830,350-38,830,350 |
| hg38 | chr4:38,828,729-38,828,729 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000381950.2:c.745T>C | ENST00000381950.2:p.Ser249Pro |
| ENST00000508254.6:c.745T>C | ENST00000508254.6:p.Ser249Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.999 |
| ToMMo:1.000 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:1.000 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
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 |
| <0.001 | proctitis | There was a negative association between TLR6 S249P and ulcerative colitis with ... | BeFree | 16374251 | Detail |
| 0.003 | ulcerative colitis | There was a negative association between TLR6 S249P and ulcerative colitis with ... | BeFree | 16374251 | Detail |
| 0.003 | Chronic Obstructive Airway Disease | Evaluation of the toll-like receptor 6 Ser249Pro polymorphism in patients with a... | BeFree | 16188043 | Detail |
| 0.003 | Dermatitis, Atopic | In addition, 11/60 (18%) children with TLR6 rs5743810 C/T versus 36/73 (49%) chi... | BeFree | 24445834 | Detail |
| <0.001 | endometritis | Among African Americans, the TLR6 rs5743810 T allele significantly decreased end... | BeFree | 23255565 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| There was a negative association between TLR6 S249P and ulcerative colitis with proctitis only (P = ... | DisGeNET | Detail |
| There was a negative association between TLR6 S249P and ulcerative colitis with proctitis only (P = ... | DisGeNET | Detail |
| Evaluation of the toll-like receptor 6 Ser249Pro polymorphism in patients with asthma, atopic dermat... | DisGeNET | Detail |
| In addition, 11/60 (18%) children with TLR6 rs5743810 C/T versus 36/73 (49%) children of other genot... | DisGeNET | Detail |
| Among African Americans, the TLR6 rs5743810 T allele significantly decreased endometritis and/or UGT... | 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
- chr4:38,830,350-38,830,350
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 193.25
- Standard deviation of sample read depth (HGVD)
- 82.47
- Number of reference allele (HGVD)
- 3
- Number of alternative allele (HGVD)
- 2415
- Allele Frequency (HGVD)
- 0.9987593052109182
- Gene Symbol (HGVD)
- TLR6
- 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))
- rs5743810
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9999
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16759
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 8648
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 4324
- East Asian Allele Frequency (ExAC)
- 1.0
- Chromosome Counts in All Race (ExAC)
- 121092
- Allele Counts in All Race (ExAC)
- 89507
- Heterozygous Counts in All Race (ExAC)
- 19771
- Homozygous Counts in All Race (ExAC)
- 34868
- Allele Frequency in All Race (ExAC)
- 0.7391652627754104
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