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: rs587778872
rs587778872
CRYGC ; LOC100507443
0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016
dbSNP: rs587778872
rs587778872
CRYGC ; LOC100507443
0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.700 0
dbSNP: rs587778872
rs587778872
CRYGC ; LOC100507443
0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.700 0