chr9:22033367:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:22,033,366-22,033,366 View the variant detail on this assembly version. |
| hg38 | chr9:22,033,367-22,033,367 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.847 | |
| 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 |
|---|---|---|---|---|---|
| 0.002 | Glaucoma, Primary Open Angle | The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cas... | BeFree | 22570617 | Detail |
| 0.001 | Glaucoma, Primary Open Angle | The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cas... | BeFree | 22570617 | Detail |
| 0.002 | Glaucoma, Primary Open Angle | The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cas... | BeFree | 22570617 | Detail |
| 0.121 | Glioma | Chromosome 7p11.2 (EGFR) variation influences glioma risk. | GWASCAT | 21531791 | Detail |
| <0.001 | Intraocular pressure disorder | For 9 of the 10 protective CDKN2B-AS1 SNPs with minor alleles associated with re... | BeFree | 23111177 | Detail |
| 0.121 | glaucoma | Common variants at 9p21 and 8q22 are associated with increased susceptibility to... | GWASCAT | 22570617 | Detail |
| <0.001 | childhood brain tumor | The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 ... | BeFree | 26014354 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 control... | DisGeNET | Detail |
| The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 control... | DisGeNET | Detail |
| The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 control... | DisGeNET | Detail |
| Chromosome 7p11.2 (EGFR) variation influences glioma risk. | DisGeNET | Detail |
| For 9 of the 10 protective CDKN2B-AS1 SNPs with minor alleles associated with reduced disease risk (... | DisGeNET | Detail |
| Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degener... | DisGeNET | Detail |
| The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 (p = 0.037), rs21577... | 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
- rs2157719 dbSNP
- Genome
- hg38
- Position
- chr9:22,033,367-22,033,367
- 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))
- rs2157719
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8467
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14190
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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