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: rs864309682
rs864309682
CRYBA4 ; CRYBB1
1.000 0.200 22 26607953 missense variant C/T snv 4.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016