chr2:227093745:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:227,093,745-227,093,745 |
| hg38 | chr2:226,229,029-226,229,029 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:0.912 | |
| 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 |
|---|---|---|---|---|---|
| 0.127 | coronary artery disease | We tested 1) four SNPs previously shown to be associated with IR (rs2972146, rs2... | BeFree | 23659870 | Detail |
| 0.005 | Diabetes Mellitus, Non-Insulin-Dependent | [Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistanc... | GAD | 19734900 | Detail |
| 0.627 | Diabetes Mellitus, Non-Insulin-Dependent | Participants with different genotypes of IRS1 rs2943641 exhibit differential ben... | BeFree | 24255076 | Detail |
| <0.001 | Overweight | We genotyped IRS1 rs2943641 in 738 overweight adults (61% were women) who were r... | BeFree | 21747052 | Detail |
| 0.218 | obesity | The IRS1 rs2943641 variant and risk of future cancer among morbidly obese indivi... | BeFree | 23418314 | 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 |
|---|---|---|
| We tested 1) four SNPs previously shown to be associated with IR (rs2972146, rs2943650), T2D (rs2943... | DisGeNET | Detail |
| [Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinem... | DisGeNET | Detail |
| Participants with different genotypes of IRS1 rs2943641 exhibit differential benefit from high circu... | DisGeNET | Detail |
| We genotyped IRS1 rs2943641 in 738 overweight adults (61% were women) who were randomly assigned to ... | DisGeNET | Detail |
| The IRS1 rs2943641 variant and risk of future cancer among morbidly obese individuals. | 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
- rs2943641 dbSNP
- Genome
- hg19
- Position
- chr2:227,093,745-227,093,745
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs2943641
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9121
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15286
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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