rs1131692289, 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 type 1
CUI: C0344542
Disease: Aniridia type 1
87 0.925 0.080 11 31802705 missense variant T/C snv 0.700 0
Aniridia
CUI: C0003076
Disease: Aniridia
29 0.925 0.080 11 31802705 missense variant T/C snv 0.010 1.000 1 2019 2019