chr17:63488529:>ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC Detail (hg38) (ACE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:61,565,890-61,565,890 |
| hg38 | chr17:63,488,529-63,488,529 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
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 |
|---|---|---|---|---|---|
| 0.203 | Kidney Diseases | We investigated the association of three ACE gene variants with DN, rs1799752 in... | BeFree | 19787680 | Detail |
| 0.201 | Aortic Aneurysm, Thoracic | Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility f... | BeFree | 25120286 | Detail |
| 0.201 | Aortic Aneurysm, Thoracic | Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility f... | BeFree | 25120286 | Detail |
| 0.277 | Heart failure | We evaluated nuclear factor kappa B {NFkB, rs28362491 [-94ins/delATTG (W/D)]} an... | BeFree | 23543433 | Detail |
| 0.024 | congestive heart failure | We evaluated nuclear factor kappa B {NFkB, rs28362491 [-94ins/delATTG (W/D)]} an... | BeFree | 23543433 | Detail |
| <0.001 | Aortic Aneurysm, Thoracic | Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility f... | BeFree | 25120286 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We investigated the association of three ACE gene variants with DN, rs1799752 insertion/deletion (I/... | DisGeNET | Detail |
| Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR ... | DisGeNET | Detail |
| Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR ... | DisGeNET | Detail |
| We evaluated nuclear factor kappa B {NFkB, rs28362491 [-94ins/delATTG (W/D)]} and angiotensin conver... | DisGeNET | Detail |
| We evaluated nuclear factor kappa B {NFkB, rs28362491 [-94ins/delATTG (W/D)]} and angiotensin conver... | DisGeNET | Detail |
| Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1799752 dbSNP
- Genome
- hg38
- Position
- chr17:63,488,529-63,488,529
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
Genome browser