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GENATLAS PHENOTYPE |
last update : 19-03-2009 |
Symbol | ARMD7 |
Location | 10q26.13 |
Name | age-related macular degeneration, 7 |
Corresponding gene | HTRA1 |
Other symbol(s) | ARMDH |
Main clinical features | loss of central vision as AMD affect the macular region of the eye |
Genetic determination | |
Function/system disorder | eye |
Type | susceptibility factor |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments | |
---|---|---|---|---|
other | variant rs11200638 (HTRA1 promoter, -512 bp) |
Remark(s) | AMD has a multifactorial aetiology with both genetic and environmental factors (age and smoking) ; the two 10q26 SNP in HTRA1 and ARMS2 contribute equally to disease risk (Francis,08) |