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: rs74315489
rs74315489
CRYBB2
0.925 0.200 22 25231617 stop gained C/T snv
CUI: C1832175
Disease: Cataract, Congenital, Cerulean Type, 2
Cataract, Congenital, Cerulean Type, 2 		0.700 0
dbSNP: rs74315489
rs74315489
CRYBB2
0.925 0.200 22 25231617 stop gained C/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0