rs121907914, PAX6

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.
Aniridia
CUI: C0003076
Disease: Aniridia
29 0.882 0.080 11 31801611 stop gained G/A snv 0.710 1.000 1 2012 2012
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
87 0.882 0.080 11 31801611 stop gained G/A snv 0.700 0
Progressive cataract
CUI: C4021566
Disease: Progressive cataract
4 0.882 0.080 11 31801611 stop gained G/A snv 0.010 1.000 1 2012 2012