chr12:112207597:G>A Detail (hg38) (HECTD4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:112,645,401-112,645,401 View the variant detail on this assembly version. |
| hg38 | chr12:112,207,597-112,207,597 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001109662.3:c.7729+277C>T | |
| Ensemble | ENST00000377560.9:c.8125+277C>T | |
| ENST00000550722.5:c.7729+277C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.177 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Malignant neoplasm of esophagus | Genome-wide association study identifies three new susceptibility loci for esoph... | GWASCAT | 21642993 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | Recent genome-wide association study (GWAS) on esophageal squamous-cell carcinom... | BeFree | 25661349 | Detail |
| 0.002 | Esophageal Neoplasms | [Genome-wide association study identifies three new susceptibility loci for esop... | GAD | 21642993 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell ... | DisGeNET | Detail |
| Recent genome-wide association study (GWAS) on esophageal squamous-cell carcinoma (ESCC) among Chine... | DisGeNET | Detail |
| [Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2074356 dbSNP
- Genome
- hg38
- Position
- chr12:112,207,597-112,207,597
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs2074356
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1769
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2965
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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