rs866395428, LCA5

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 0.040 6 79493633 stop gained G/A snv 0.700 1.000 4 2000 2007
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 1.000 0.040 6 79493633 stop gained G/A snv 0.700 1.000 1 2015 2015
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 1.000 0.040 6 79493633 stop gained G/A snv 0.700 1.000 1 2015 2015