chr4:38807654:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:38,807,654-38,807,654 |
| hg38 | chr4:38,806,033-38,806,033 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:0.680 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Non-small cell lung carcinoma | Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... | BeFree | 21412764 | Detail |
| <0.001 | Non-small cell lung carcinoma | Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... | BeFree | 21412764 | Detail |
| <0.001 | Non-small cell lung carcinoma | Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... | BeFree | 21412764 | Detail |
| 0.003 | coronary artery disease | We revealed that the C/C genotype of the TLR1 rs5743551 polymorphism was signifi... | BeFree | 25128583 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... | DisGeNET | Detail |
| Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... | DisGeNET | Detail |
| Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... | DisGeNET | Detail |
| We revealed that the C/C genotype of the TLR1 rs5743551 polymorphism was significantly associated wi... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs5743551 dbSNP
- Genome
- hg19
- Position
- chr4:38,807,654-38,807,654
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs5743551
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6802
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11400
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser