rs121907919, 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 31800837 missense variant A/T snv 0.700 1.000 17 1993 2014
ANIRIDIA, ATYPICAL
CUI: C4017066
Disease: ANIRIDIA, ATYPICAL
1 0.925 0.080 11 31800837 missense variant A/T snv 0.700 0