chr10:79565655:G>A Detail (hg19) (DLG5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:79,565,655-79,565,655 |
| hg38 | chr10:77,805,897-77,805,897 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004747.3:c.4968-36C>T | |
| Ensemble | ENST00000372391.7:c.4968-36C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.233 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.189 |
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 |
|---|---|---|---|---|---|
| 0.157 | Inflammatory Bowel Diseases | Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitme... | BeFree | 17476680 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitment domain 15); Asp29... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2289311 dbSNP
- Genome
- hg19
- Position
- chr10:79,565,655-79,565,655
- 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))
- rs2289311
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2328
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3902
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8586
- East Asian Allele Counts (ExAC)
- 1623
- East Asian Heterozygous Counts (ExAC)
- 1313
- East Asian Homozygous Counts (ExAC)
- 155
- East Asian Allele Frequency (ExAC)
- 0.18902865129280225
- Chromosome Counts in All Race (ExAC)
- 116658
- Allele Counts in All Race (ExAC)
- 35747
- Heterozygous Counts in All Race (ExAC)
- 24319
- Homozygous Counts in All Race (ExAC)
- 5714
- Allele Frequency in All Race (ExAC)
- 0.3064256201889283
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