chr9:22096055:A>G Detail (hg19) (CDKN2B-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:22,096,055-22,096,055 |
| hg38 | chr9:22,096,056-22,096,056 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:0.469 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
risk factor
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
risk factor
|
no assertion criteria provided | Three Vessel Coronary Disease |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.005 | Cerebrovascular accident | The odds ratios for noncardioembolic stroke were 1.31 (90% CI 1.07-1.60) for rs3... | BeFree | 19752551 | Detail |
| 0.005 | Coronary heart disease | A case-control study to investigate the association of the 9p21 single nucleotid... | BeFree | 23569135 | Detail |
| <0.001 | Coronary heart disease | The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... | BeFree | 21804106 | Detail |
| 0.002 | myocardial infarction | Recent genome-wide association studies have identified 4 SNPs on chromosome 9p21... | BeFree | 18048766 | Detail |
| <0.001 | Cerebrovascular accident | We found a modest increase in ischemic stroke risk for 2 common (minor allele fr... | BeFree | 20031580 | Detail |
| 0.016 | Coronary heart disease | We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... | BeFree | 18599554 | Detail |
| 0.007 | Coronary heart disease | The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... | BeFree | 21804106 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | In a hospital based case control study, we investigated the association of cycli... | BeFree | 19559344 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | Furthermore, T2DM is likely to have an interaction with CDKN2A/B (rs10757274) th... | BeFree | 25430018 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | We found a modest increase in ischemic stroke risk for 2 common (minor allele fr... | BeFree | 20031580 | Detail |
| 0.123 | Coronary heart disease | The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... | BeFree | 21804106 | Detail |
| <0.001 | Ischemic stroke | In a hospital based case control study, we investigated the association of cycli... | BeFree | 19559344 | Detail |
| <0.001 | Coronary heart disease | Using the combined TDT/S-TDT test, the 3 single nucleotide polymorphisms (SNP), ... | BeFree | 18957718 | Detail |
| 0.226 | Cardiovascular Diseases | Polymorphism at rs10757274 in chromosome 9p21.3 and additional cardiovascular di... | BeFree | 19153409 | Detail |
| <0.001 | Ischemic stroke | In a hospital based case control study, we investigated the association of cycli... | BeFree | 19559344 | Detail |
| <0.001 | Ischemic stroke | In a hospital based case control study, we investigated the association of cycli... | BeFree | 19559344 | Detail |
| 0.005 | Coronary Arteriosclerosis | A case-control study to investigate the association of the 9p21 single nucleotid... | BeFree | 23569135 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | In a hospital based case control study, we investigated the association of cycli... | BeFree | 19559344 | Detail |
| <0.001 | Ischemic stroke | We found a modest increase in ischemic stroke risk for 2 common (minor allele fr... | BeFree | 20031580 | Detail |
| 0.123 | Coronary heart disease | The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... | BeFree | 21804106 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | In a hospital based case control study, we investigated the association of cycli... | BeFree | 19559344 | Detail |
| 0.016 | Coronary heart disease | We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... | BeFree | 18599554 | Detail |
| 0.013 | myocardial infarction | Furthermore, T2DM is likely to have an interaction with CDKN2A/B (rs10757274) th... | BeFree | 25430018 | Detail |
| 0.126 | Coronary heart disease | The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... | BeFree | 21804106 | Detail |
| 0.005 | Coronary heart disease | The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... | BeFree | 21804106 | Detail |
| 0.125 | Coronary heart disease | Genome-wide association study in Han Chinese identifies four new susceptibility ... | GWASCAT | 22751097 | Detail |
| 0.005 | coronary artery disease | A case-control study to investigate the association of the 9p21 single nucleotid... | BeFree | 23569135 | Detail |
| 0.007 | Coronary heart disease | We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... | BeFree | 18599554 | Detail |
| 0.005 | Coronary heart disease | We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... | BeFree | 18599554 | Detail |
| 0.005 | Coronary heart disease | We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... | BeFree | 18599554 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000009.12:g.22096056A>G AND Three Vessel Coronary Disease | ClinVar | Detail |
| The odds ratios for noncardioembolic stroke were 1.31 (90% CI 1.07-1.60) for rs3900940 in MYH15, 1.2... | DisGeNET | Detail |
| A case-control study to investigate the association of the 9p21 single nucleotide polymorphisms (SNP... | DisGeNET | Detail |
| The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... | DisGeNET | Detail |
| Recent genome-wide association studies have identified 4 SNPs on chromosome 9p21 associated with CAD... | DisGeNET | Detail |
| We found a modest increase in ischemic stroke risk for 2 common (minor allele frequencies 0.46 to 0.... | DisGeNET | Detail |
| We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... | DisGeNET | Detail |
| The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... | DisGeNET | Detail |
| In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... | DisGeNET | Detail |
| Furthermore, T2DM is likely to have an interaction with CDKN2A/B (rs10757274) that contributes to th... | DisGeNET | Detail |
| We found a modest increase in ischemic stroke risk for 2 common (minor allele frequencies 0.46 to 0.... | DisGeNET | Detail |
| The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... | DisGeNET | Detail |
| In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... | DisGeNET | Detail |
| Using the combined TDT/S-TDT test, the 3 single nucleotide polymorphisms (SNP), rs10757274, rs238320... | DisGeNET | Detail |
| Polymorphism at rs10757274 in chromosome 9p21.3 and additional cardiovascular disease risk factors (... | DisGeNET | Detail |
| In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... | DisGeNET | Detail |
| In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... | DisGeNET | Detail |
| A case-control study to investigate the association of the 9p21 single nucleotide polymorphisms (SNP... | DisGeNET | Detail |
| In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... | DisGeNET | Detail |
| We found a modest increase in ischemic stroke risk for 2 common (minor allele frequencies 0.46 to 0.... | DisGeNET | Detail |
| The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... | DisGeNET | Detail |
| In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... | DisGeNET | Detail |
| We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... | DisGeNET | Detail |
| Furthermore, T2DM is likely to have an interaction with CDKN2A/B (rs10757274) that contributes to th... | DisGeNET | Detail |
| The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... | DisGeNET | Detail |
| The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... | DisGeNET | Detail |
| Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary ar... | DisGeNET | Detail |
| A case-control study to investigate the association of the 9p21 single nucleotide polymorphisms (SNP... | DisGeNET | Detail |
| We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... | DisGeNET | Detail |
| We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... | DisGeNET | Detail |
| We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10757274 dbSNP
- Genome
- hg19
- Position
- chr9:22,096,055-22,096,055
- 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))
- rs10757274
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4689
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7858
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser