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
- Thromboembolism
- Source Database
- DisGeNET
- Description
- We, therefore, evaluated the CFH genetic variant Y402H amongst 685 Caucasian individuals who subsequently developed arterial or venous thrombotic event (incident myocardial infarction (MI), ischaemic stroke, or venous thromboembolism) and amongst 685 age- and smoking-matched Caucasian individuals who remained free of reported vascular disease during follow-up (controls) within the Physicians' Health Study cohort.
- Pubmed
- 16229850
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2006
Drugs