rs121907916, 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 31794705 stop gained G/A snv 0.710 1.000 1 2016 2016
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
87 0.882 0.080 11 31794705 stop gained G/A snv 0.700 0
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
32 0.882 0.080 11 31794705 stop gained G/A snv 0.700 0