chr7:99270539:T>C Detail (hg19) (CYP3A5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:99,270,539-99,270,539 |
| hg38 | chr7:99,672,916-99,672,916 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000777.4:c.219-237A>G | |
| NM_001291829.1:c.219-237A>G | ||
| NM_001291830.1:c.219-237A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.018 | Hypertensive disease | The CYP3A5 genotype was related with blood pressure in the general population, b... | BeFree | 20617557 | Detail |
| 0.003 | Hypertensive disease | The CYP3A5 genotype was related with blood pressure in the general population, b... | BeFree | 20617557 | Detail |
| 0.008 | Hypertensive disease | The CYP3A5 genotype was related with blood pressure in the general population, b... | BeFree | 20617557 | Detail |
| 0.010 | Cerebrovascular accident | Eight variants in five candidate genes were examined for the risk of stroke, inc... | BeFree | 24368493 | Detail |
| 0.115 | Cerebrovascular accident | Eight variants in five candidate genes were examined for the risk of stroke, inc... | BeFree | 24368493 | Detail |
| 0.091 | Cerebrovascular accident | Eight variants in five candidate genes were examined for the risk of stroke, inc... | BeFree | 24368493 | Detail |
| <0.001 | Colorectal cancer metastatic | CYP3A5 rs776746 A>G polymorphisms have a prognostic contribution toward FOLFI... | BeFree | 25934339 | Detail |
| <0.001 | Carcinogenesis | Emerging evidences suggest that CYP3A5*3 (rs776746 A>G) polymorphism may play... | BeFree | 23584898 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... | DisGeNET | Detail |
| The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... | DisGeNET | Detail |
| The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... | DisGeNET | Detail |
| Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... | DisGeNET | Detail |
| Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... | DisGeNET | Detail |
| Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... | DisGeNET | Detail |
| CYP3A5 rs776746 A>G polymorphisms have a prognostic contribution toward FOLFIRI regimen in mCRC. | DisGeNET | Detail |
| Emerging evidences suggest that CYP3A5*3 (rs776746 A>G) polymorphism may play a role in the etiol... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs776746 dbSNP
- Genome
- hg19
- Position
- chr7:99,270,539-99,270,539
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
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