Annotation Detail
Information
- Associated Genes
- SKIC2
- Associated Variants
-
HIF1A p.Pro582Ser (p.P582S)
(
ENST00000337138.9,
ENST00000323441.10,
ENST00000394997.5,
ENST00000539097.2 )
HIF1A p.Ala588Thr (p.A588T) ( ENST00000337138.9, ENST00000323441.10, ENST00000394997.5, ENST00000539097.2 )
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 )
MYRIP c.1666-63G>A ( ENST00000302541.11, ENST00000396217.7, ENST00000425621.5, ENST00000444716.5, ENST00000539167.2 )
SKIC2 c.1212-29G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
HIF1A p.Pro582Ser (p.P582S) ( ENST00000323441.10, ENST00000337138.9, ENST00000394997.5, ENST00000539097.2 )
HIF1A p.Ala588Thr (p.A588T) ( ENST00000323441.10, ENST00000337138.9, ENST00000394997.5, ENST00000539097.2 )
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 )
MYRIP c.1666-63G>A ( ENST00000302541.11, ENST00000396217.7, ENST00000425621.5, ENST00000444716.5, ENST00000539167.2 )
SKIC2 c.1212-29G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- Genotype distribution of rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) and both rs11549465 and rs11549467 (HIF1A) in AMD cases and healthy controls; association between genotypes and AMD subtypes.
- Pubmed
- 24995509
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.13082533727481
- Year of publication
- 2014
Drugs