chr6:32076499:G>A Detail (hg19) (TNXB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,076,499-32,076,499 |
| hg38 | chr6:32,108,722-32,108,722 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019105.6:c.-9+459C>T | |
| Ensemble | ENST00000375244.7:c.-9+459C>T | |
| ENST00000479795.1:c.-9+459C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.313 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Eosinophilia | We recruited 284 patients with NP in four participating hospitals in Belgium and... | BeFree | 19860791 | Detail |
| <0.001 | Disorder characterized by eosinophilia | We recruited 284 patients with NP in four participating hospitals in Belgium and... | BeFree | 19860791 | Detail |
| <0.001 | Eosinophilic disorder | We recruited 284 patients with NP in four participating hospitals in Belgium and... | BeFree | 19860791 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy control... | DisGeNET | Detail |
| We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy control... | DisGeNET | Detail |
| We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy control... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2269426 dbSNP
- Genome
- hg19
- Position
- chr6:32,076,499-32,076,499
- 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))
- rs2269426
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3131
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5247
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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