Variant "CFH:c.1204C>T(p.Tyr402His)"
Search result: 1 record
Variant information
Gene:
CFH 
Variant:
CFH:c.1204C>T(p.Tyr402His) 
dbSNP ID:
rs1061170  
GWAS trait:
blood protein measurement,wet macular degeneration,atrophic macular degeneration,age-related macular degeneration 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Systemic Inflammatory Response Syndrome (EFO_1001478)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    P<0.005 
    Effect:
    The complement factor H Y402H variant allele is protective
    Reference:
    PMID20351616
    Title:
    Genetic variability in complement activation modulates the systemic inflammatory response syndrome in children.
    Species studied:
    Human
    Abstract:
    To determine the impact of genetic variability in complement activation on early development of the systemic inflammatory response syndrome (SIRS) in general pediatric critical care.