Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864309681
rs864309681
PAX6 ; ELP4
0.925 0.200 11 31790816 frameshift variant G/- delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016
dbSNP: rs864309681
rs864309681
PAX6 ; ELP4
0.925 0.200 11 31790816 frameshift variant G/- delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.700 0