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: rs144451841
rs144451841
CRYAB
1.000 0.200 11 111910331 missense variant C/A;T snv 1.2E-05
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016