chr4:100274286:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:100,274,286-100,274,286 |
| hg38 | chr4:99,353,129-99,353,129 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:0.061 | |
| 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 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| 0.124 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| 0.126 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| 0.021 | Head and Neck Neoplasms | [A genome-wide association study of upper aerodigestive tract cancers conducted ... | GAD | 21437268 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| [A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE c... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1789924 dbSNP
- Genome
- hg19
- Position
- chr4:100,274,286-100,274,286
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs1789924
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0612
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1025
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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