chr1:150730079:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:150,702,555-150,738,433 |
| hg38 | chr1:150,730,079-150,765,957 |
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 |
|---|---|---|---|---|---|
| 0.003 | Coronary heart disease | CTSS promoter -25G/A: not a risk factor for CHD in Chinese. | BeFree | 19593952 | Detail |
| 0.003 | Cardiovascular Diseases | NA | BeFree,LHGDN | Detail | |
| 0.080 | intracranial aneurysm | NA | RGD | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.003 | Coronary heart disease | NA | BeFree,GAD | Detail | |
| <0.001 | Crohn Disease | NA | BeFree | Detail | |
| <0.001 | cutis laxa | NA | BeFree | Detail | |
| <0.001 | cystic fibrosis | NA | BeFree | Detail | |
| 0.120 | contact dermatitis | NA | CTD_human | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| 0.120 | IgA glomerulonephritis | NA | CTD_human | Detail | |
| 0.080 | Hyperalgesia | NA | BeFree,RGD | Detail | |
| <0.001 | Kidney Failure, Chronic | NA | BeFree | Detail | |
| <0.001 | Liver diseases | NA | BeFree | Detail | |
| <0.001 | Lung diseases | NA | BeFree | Detail | |
| <0.001 | Chronic Obstructive Airway Disease | NA | BeFree | Detail | |
| 0.005 | multiple sclerosis | NA | GAD | Detail | |
| <0.001 | myasthenia gravis | NA | BeFree | Detail | |
| 0.003 | myositis | NA | LHGDN | Detail | |
| 0.120 | Neoplasm Invasiveness | NA | CTD_human | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.080 | Neuralgia | NA | RGD | Detail | |
| 0.124 | obesity | NA | BeFree,CTD_human,GAD | Detail | |
| <0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
| <0.001 | Peripheral neuropathy | NA | BeFree | Detail | |
| 0.003 | pulmonary emphysema | NA | BeFree,LHGDN | Detail | |
| <0.001 | Aortic Aneurysm, Abdominal | In vitro, human abdominal aortic aneurysm vascular smooth muscle cells produced ... | BeFree | 25301844 | Detail |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Inflammatory pain | NA | BeFree | Detail | |
| <0.001 | Stable angina | Atorvastatin-induced CTSS-lowering and LDL subclass profile improvements in the ... | BeFree | 24727728 | Detail |
| <0.001 | Aortic aneurysm without mention of rupture NOS | These findings support a role for osteoprotegerin in aortic aneurysm through upr... | BeFree | 25301844 | Detail |
| <0.001 | Chronic Kidney Insufficiency | NA | BeFree | Detail | |
| <0.001 | Aortic valve calcification | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Myasthenia Gravis, Autoimmune, Experimental | NA | BeFree | Detail | |
| <0.001 | Pseudomonas aeruginosa infection | NA | BeFree | Detail | |
| <0.001 | vascular aneurysm | In vitro, human abdominal aortic aneurysm vascular smooth muscle cells produced ... | BeFree | 25301844 | Detail |
| <0.001 | Chronic Kidney Diseases | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| <0.001 | aortic aneurysm | These findings support a role for osteoprotegerin in aortic aneurysm through upr... | BeFree | 25301844 | Detail |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | asthma | NA | BeFree | Detail | |
| <0.001 | atherosclerosis | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| CTSS promoter -25G/A: not a risk factor for CHD in Chinese. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In vitro, human abdominal aortic aneurysm vascular smooth muscle cells produced more CTSS and exhibi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Atorvastatin-induced CTSS-lowering and LDL subclass profile improvements in the plasma of LDL phenot... | DisGeNET | Detail |
| These findings support a role for osteoprotegerin in aortic aneurysm through upregulation of CTSS, m... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In vitro, human abdominal aortic aneurysm vascular smooth muscle cells produced more CTSS and exhibi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These findings support a role for osteoprotegerin in aortic aneurysm through upregulation of CTSS, m... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386494927 dbSNP
- Genome
- hg38
- Position
- chr1:150,730,079-150,765,957
- Variant Type
- snv
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