chr10:70000881:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:70,000,881-70,000,881 |
| hg38 | chr10:68,241,124-68,241,124 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:0.338 | |
| 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 | primary angle-closure glaucoma | The T allele of ATOH7 rs1900004 was observed less frequently in the patients wit... | BeFree | 25489222 | Detail |
| <0.001 | low tension glaucoma | The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... | BeFree | 22584021 | Detail |
| <0.001 | low tension glaucoma | The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... | BeFree | 22584021 | Detail |
| <0.001 | low tension glaucoma | The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... | BeFree | 22584021 | Detail |
| <0.001 | Intraocular pressure disorder | The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... | BeFree | 22584021 | Detail |
| <0.001 | Intraocular pressure disorder | The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... | BeFree | 22584021 | Detail |
| <0.001 | Intraocular pressure disorder | The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... | BeFree | 22584021 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The T allele of ATOH7 rs1900004 was observed less frequently in the patients with PACG (p=0.03; OR=0... | DisGeNET | Detail |
| The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... | DisGeNET | Detail |
| The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... | DisGeNET | Detail |
| The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... | DisGeNET | Detail |
| The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... | DisGeNET | Detail |
| The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... | DisGeNET | Detail |
| The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1900004 dbSNP
- Genome
- hg19
- Position
- chr10:70,000,881-70,000,881
- 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))
- rs1900004
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3379
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5664
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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