chr8:144078648:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:145,133,551-145,135,551 |
| hg38 | chr8:144,078,648-144,080,648 |
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 |
|---|---|---|---|---|---|
| <0.001 | renal cell carcinoma | NA | BeFree | Detail | |
| <0.001 | Cardiovascular Diseases | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| 0.001 | Coronary heart disease | NA | BeFree | Detail | |
| 0.003 | Diabetes | NA | BeFree | Detail | |
| 0.003 | diabetes mellitus | NA | BeFree | Detail | |
| <0.001 | Diabetic Nephropathy | NA | BeFree | Detail | |
| <0.001 | eclampsia | NA | BeFree | Detail | |
| 0.002 | obesity | Furthermore, four genes (FZD7, PRLHR, EXOSC4, and EIF6) with differential promot... | BeFree | 25871514 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... | BeFree | 17570749 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | The P12A variant in the PPARG gene and the E23K polymorphism in KCNJ11 are both ... | BeFree | 17994213 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | In contrast, the well-documented associations of peroxisome proliferator-activat... | BeFree | 15561965 | Detail |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Dyslipidemias | NA | BeFree | Detail | |
| <0.001 | Impaired glucose tolerance | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | endometrial carcinoma | NA | BeFree | Detail | |
| 0.001 | Metabolic syndrome X | NA | BeFree | Detail | |
| <0.001 | Carotid Atherosclerosis | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Insulin resistance syndrome | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| Furthermore, four genes (FZD7, PRLHR, EXOSC4, and EIF6) with differential promoter methylation were ... | DisGeNET | Detail |
| By using a Cox proportional hazard model, common variants in the PPARG (P12A), CAPN10 (SNP43 and 44)... | DisGeNET | Detail |
| The P12A variant in the PPARG gene and the E23K polymorphism in KCNJ11 are both known to influence i... | DisGeNET | Detail |
| In contrast, the well-documented associations of peroxisome proliferator-activated receptor gamma P1... | 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 |
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
- rs386597997 dbSNP
- Genome
- hg38
- Position
- chr8:144,078,648-144,080,648
- Variant Type
- snv
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