Annotation Detail
Information
- Associated Genes
- HTRA1
- Associated Variants
-
HTRA1 c.-625G>A
(
ENST00000648167.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 ) - Associated Disease
- age related macular degeneration 7
- Source Database
- ClinVar
- Description
- NM_002775.4(HTRA1):c.-625G>A AND Age related macular degeneration 7
- ClinVar Allele ID
- 22525
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2015-02-18
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007914
- ClinVar Disease
- Age related macular degeneration 7
- Observed Origin Sample
- germline
- Pubmed
- 19259132
- Pubmed
- 17053109
- Pubmed
- 17053108
- Pubmed
- 17568988
- Pubmed
- 18511946
Drugs