rs757259413, PAX6

N. diseases: 2
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 0.925 0.080 11 31794690 missense variant G/A snv 4.0E-06 0.700 1.000 17 1993 2014
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
87 0.925 0.080 11 31794690 missense variant G/A snv 4.0E-06 0.700 0