chr10:68232096:A>G Detail (hg38) (ATOH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:69,991,853-69,991,853 View the variant detail on this assembly version. |
| hg38 | chr10:68,232,096-68,232,096 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_145178.3:c.-419T>C | |
| Ensemble | ENST00000373673.5:c.-419T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.663 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2018-11-10 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Glaucoma, Primary Open Angle | The minor allele of rs1063192 interacts with that of rs7916697 (ATOH7)) to reduc... | BeFree | 22761751 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_145178.4(ATOH7):c.-419T>C AND not provided | ClinVar | Detail |
| The minor allele of rs1063192 interacts with that of rs7916697 (ATOH7)) to reduce POAG risk. | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7916697 dbSNP
- Genome
- hg38
- Position
- chr10:68,232,096-68,232,096
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs7916697
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6626
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11105
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser