Annotation Detail

Information
Associated Genes
CFH
Associated Variants
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 )
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
Hypertensive disease
Source Database
DisGeNET
Description
Association of the complement factor H Y402H polymorphism with cardiovascular disease is dependent upon hypertension status: The ARIC study.
Pubmed
18292760
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00854418168799245
Year of publication
2008
Drugs