Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ARMS2 p.Arg38= (p.R38=)
(
ENST00000528446.1 )
ARMS2 p.Arg38Ter (p.R38*) ( ENST00000528446.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
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 )
ARMS2 p.Arg38= (p.R38=) ( ENST00000528446.1 )
ARMS2 p.Arg38Ter (p.R38*) ( ENST00000528446.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
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 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- Our purpose was to assess influence of gene polymorphisms A69S (rs10490924) and R38X (rs2736911) ARMS2 and Y402 (rs1061170) CFH on wet ARMD risk in a Polish population.
- Pubmed
- 22293892
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2012
Drugs