chr7:99270539:> Detail (hg19) (CYP3A5, ZSCAN25)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:99,270,539-99,270,539 |
| hg38 | chr7:99,672,916-99,672,916 |
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
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2004-12-01 | no assertion criteria provided | Hypertension, salt-sensitive essential, susceptibility to |
germline
|
Detail |
association
|
2022-03-23 | no assertion criteria provided | refractory myasthenia gravis |
inherited
|
Detail |
drug response
|
2022-04-15 | no assertion criteria provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000777.5(CYP3A5):c.219-237A>G AND Hypertension, salt-sensitive essential, susceptibility to | ClinVar | Detail |
| NM_000777.5(CYP3A5):c.219-237A>G AND refractory myasthenia gravis | ClinVar | Detail |
| NM_000777.5(CYP3A5):c.219-237A>G AND Tacrolimus response | ClinVar | Detail |
| Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in huma... | GWAS Catalog | Detail |
| Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in huma... | GWAS Catalog | Detail |
| Genetic Variants Associated with Immunosuppressant Pharmacokinetics and Adverse Effects in the DeKAF... | GWAS Catalog | Detail |
| Genetic Variants Associated with Immunosuppressant Pharmacokinetics and Adverse Effects in the DeKAF... | GWAS Catalog | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr7:99,270,539-99,270,539
- Variant Type
- snv
Genome browser