chr7:130466854:A>G Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:130,466,854-130,466,854 |
| hg38 | chr7:130,782,095-130,782,095 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:0.728 | |
| 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 | [Twelve type 2 diabetes susceptibility loci identified through large-scale assoc... | GAD | 20581827 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly as... | BeFree | 22046406 | Detail |
| 0.001 | Diabetes Mellitus, Non-Insulin-Dependent | The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly as... | BeFree | 22046406 | Detail |
| 0.290 | Diabetes Mellitus, Non-Insulin-Dependent | The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly as... | BeFree | 22046406 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.] | DisGeNET | Detail |
| The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly associated with type 2... | DisGeNET | Detail |
| The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly associated with type 2... | DisGeNET | Detail |
| The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly associated with type 2... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs972283 dbSNP
- Genome
- hg19
- Position
- chr7:130,466,854-130,466,854
- 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))
- rs972283
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7278
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12196
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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