CRYGB, crystallin gamma B, 1419

N. diseases: 9; N. variants: 6
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3214759
rs3214759
1.000 2 208146054 intron variant C/- delins 0.14 0.15
CUI: C3808800
Disease: CATARACT 39, MULTIPLE TYPES
CATARACT 39, MULTIPLE TYPES
0.700 0
dbSNP: rs387907342
rs387907342
1.000 2 208145954 frameshift variant G/- delins 7.0E-06
CUI: C3808800
Disease: CATARACT 39, MULTIPLE TYPES
CATARACT 39, MULTIPLE TYPES
0.700 0