Source: ALL

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
dbSNP: rs1064793935
rs1064793935
CRYBA4 ; CRYBB1
1.000 22 26616149 frameshift variant C/- delins
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		0.700 0
dbSNP: rs1569203234
rs1569203234
CRYBB1
1.000 22 26599664 frameshift variant G/- del
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		0.700 0
dbSNP: rs74315488
rs74315488
CRYBB1
1.000 22 26599591 stop gained C/A snv
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		0.700 0
dbSNP: rs1114167433
rs1114167433
CRYBA4 ; CRYBB1
0.925 0.200 22 26607934 missense variant G/T snv
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.020 1.000 2 2011 2013
dbSNP: rs1114167433
rs1114167433
CRYBA4 ; CRYBB1
0.925 0.200 22 26607934 missense variant G/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.020 1.000 2 2011 2013
dbSNP: rs1114167432
rs1114167432
CRYBB1
1.000 0.040 22 26599492 stop lost A/G snv
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.010 1.000 1 2016 2016