rs759557055, 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 0.120 11 31801704 missense variant C/A;T snv 0.010 1.000 1 2019 2019
Congenital nystagmus
CUI: C0700501
Disease: Congenital nystagmus
5 0.925 0.120 11 31801704 missense variant C/A;T snv 0.010 1.000 1 2019 2019