chr9:22124478:A>G Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:22,124,477-22,124,477 View the variant detail on this assembly version. |
| hg38 | chr9:22,124,478-22,124,478 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.486 | |
| 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 |
|---|---|---|---|---|---|
| 0.005 | Coronary heart disease | A case-control study to investigate the association of the 9p21 single nucleotid... | BeFree | 23569135 | Detail |
| 0.002 | myocardial infarction | Recent genome-wide association studies have identified 4 SNPs on chromosome 9p21... | BeFree | 18048766 | Detail |
| 0.005 | Coronary Arteriosclerosis | A case-control study to investigate the association of the 9p21 single nucleotid... | BeFree | 23569135 | Detail |
| 0.005 | coronary artery disease | A case-control study to investigate the association of the 9p21 single nucleotid... | BeFree | 23569135 | Detail |
| <0.001 | Cerebrovascular accident | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| <0.001 | Aortic aneurysm without mention of rupture NOS | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| <0.001 | coronary artery disease | Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes AT... | BeFree | 24782050 | Detail |
| 0.122 | coronary artery disease | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| <0.001 | Aortic aneurysm without mention of rupture NOS | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| 0.016 | Coronary heart disease | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| 0.001 | Coronary Arteriosclerosis | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| 0.125 | Coronary heart disease | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| <0.001 | aortic aneurysm | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| <0.001 | Aortic aneurysm without mention of rupture NOS | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| 0.135 | coronary artery disease | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| <0.001 | aortic aneurysm | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| 0.001 | Coronary Arteriosclerosis | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| 0.002 | coronary artery disease | Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes AT... | BeFree | 24782050 | Detail |
| 0.016 | Coronary heart disease | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| <0.001 | aortic aneurysm | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| 0.001 | Coronary Arteriosclerosis | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| 0.012 | coronary artery disease | Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(IN... | BeFree | 19343170 | Detail |
| 0.012 | myocardial infarction | [A common variant on chromosome 9p21 affects the risk of myocardial infarction.] | GAD | 17478679 | Detail |
| 0.013 | myocardial infarction | [A common variant on chromosome 9p21 affects the risk of myocardial infarction.] | GAD | 17478679 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A case-control study to investigate the association of the 9p21 single nucleotide polymorphisms (SNP... | DisGeNET | Detail |
| Recent genome-wide association studies have identified 4 SNPs on chromosome 9p21 associated with CAD... | DisGeNET | Detail |
| A case-control study to investigate the association of the 9p21 single nucleotide polymorphisms (SNP... | DisGeNET | Detail |
| A case-control study to investigate the association of the 9p21 single nucleotide polymorphisms (SNP... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes ATC (OR = 4.26; 95%CI ... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes ATC (OR = 4.26; 95%CI ... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL)... | DisGeNET | Detail |
| [A common variant on chromosome 9p21 affects the risk of myocardial infarction.] | DisGeNET | Detail |
| [A common variant on chromosome 9p21 affects the risk of myocardial infarction.] | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs10757278 dbSNP
- Genome
- hg38
- Position
- chr9:22,124,478-22,124,478
- 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))
- rs10757278
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4861
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8147
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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