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References OMIM Gene GeneReviews HGMD HGNC
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
Gene mutationChromosome rearrangementEffectComments
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)