chr3:186842993:G>A Detail (hg38) (ADIPOQ)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:186,560,782-186,560,782 View the variant detail on this assembly version. |
| hg38 | chr3:186,842,993-186,842,993 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004797.3:c.-9+244G>A | |
| NM_001177800.1:c.-60+244G>A | ||
| Ensemble | ENST00000320741.7:c.-9+244G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.500 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.011 | Vascular Diseases | From a group of DNA samples collected at baseline in a prospective cohort of 14 ... | BeFree | 16990411 | Detail |
| <0.001 | Diabetic Nephropathy | The minor allele (A) in a single SNP in intron 1 (rs182052) was associated with ... | BeFree | 19056609 | Detail |
| <0.001 | Conventional (Clear Cell) Renal Cell Carcinoma | ADIPOQ polymorphism rs182052 is associated with clear cell renal cell carcinoma. | BeFree | 25827778 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially health... | DisGeNET | Detail |
| The minor allele (A) in a single SNP in intron 1 (rs182052) was associated with diabetic nephropathy... | DisGeNET | Detail |
| ADIPOQ polymorphism rs182052 is associated with clear cell renal cell carcinoma. | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs182052 dbSNP
- Genome
- hg38
- Position
- chr3:186,842,993-186,842,993
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs182052
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8380
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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