Annotation Detail
Information
- Associated Genes
- VEGFA
- Associated Variants
-
HTRA1 c.-625G>A
(
ENST00000648167.1 )
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( ENST00000695981.1, ENST00000695984.1, ENST00000359637.3, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695979.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000695987.1, ENST00000695978.1, ENST00000696029.1, ENST00000696023.1, ENST00000630130.2, ENST00000696027.1 )
VEGFA c.607-1400T>C ( ENST00000230480.10, ENST00000324450.11, ENST00000372055.9, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000413642.8, ENST00000417285.7, ENST00000425836.9, ENST00000457104.6, ENST00000482630.7, ENST00000518689.5, ENST00000518824.5, ENST00000520948.5, ENST00000523125.5, ENST00000523873.5, ENST00000523950.5, ENST00000672860.3 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 )
VEGFA c.607-1400T>C ( ENST00000417285.7, ENST00000425836.9, ENST00000457104.6, ENST00000482630.7, ENST00000518689.5, ENST00000518824.5, ENST00000520948.5, ENST00000523125.5, ENST00000523873.5, ENST00000523950.5, ENST00000672860.3, ENST00000230480.10, ENST00000324450.11, ENST00000372055.9, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000413642.8 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined.
- Pubmed
- 24080590
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.18493687282048
- Year of publication
- 2013
Drugs