rs121907917, PAX6

N. diseases: 6
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 0.807 0.240 11 31794079 stop gained G/A snv 0.720 1.000 2 2009 2009
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
87 0.807 0.240 11 31794079 stop gained G/A snv 0.700 1.000 8 2009 2016
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
32 0.807 0.240 11 31794079 stop gained G/A snv 0.700 1.000 8 2009 2016
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2009 2009
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2016 2016
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
25 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2016 2016