chr9:22129580:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:22,129,579-22,129,579 View the variant detail on this assembly version. |
| hg38 | chr9:22,129,580-22,129,580 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.423 | |
| 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 |
|---|---|---|---|---|---|
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... | BeFree | 20580033 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... | BeFree | 20580033 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... | BeFree | 20580033 | Detail |
| 0.214 | Diabetes Mellitus, Non-Insulin-Dependent | Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... | BeFree | 20580033 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... | DisGeNET | Detail |
| Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... | DisGeNET | Detail |
| Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... | DisGeNET | Detail |
| Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs7020996 dbSNP
- Genome
- hg38
- Position
- chr9:22,129,580-22,129,580
- 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))
- rs7020996
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4226
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7083
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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