chr17:69951455:T>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:67,947,596-67,947,596 View the variant detail on this assembly version. |
| hg38 | chr17:69,951,455-69,951,455 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.948 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Metabolic syndrome X | In a marker-by-marker analysis, the ADRB2 rs180088 (OR 1.22, 95% CI 1.01-1.48) a... | BeFree | 19619703 | Detail |
| 0.016 | Metabolic syndrome X | In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... | BeFree | 19619703 | Detail |
| 0.015 | Metabolic syndrome X | In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... | BeFree | 19619703 | Detail |
| 0.013 | Metabolic syndrome X | In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... | BeFree | 19619703 | Detail |
| 0.003 | Metabolic syndrome X | In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... | BeFree | 19619703 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a marker-by-marker analysis, the ADRB2 rs180088 (OR 1.22, 95% CI 1.01-1.48) and PAI1 rs1799768 (O... | DisGeNET | Detail |
| In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... | DisGeNET | Detail |
| In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... | DisGeNET | Detail |
| In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... | DisGeNET | Detail |
| In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs180088 dbSNP
- Genome
- hg38
- Position
- chr17:69,951,455-69,951,455
- 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))
- rs180088
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9484
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15896
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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