Disease: Congenital cataract
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 12
rs28931605
LOC100507443 ; CRYGD
0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 6
rs587778872
CRYGC ; LOC100507443
0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 6
rs1114167307
GJA3
0.851 0.200 13 20143233 missense variant G/A snv 4
rs1463326176
LOC100507443 ; CRYGD
0.851 0.200 2 208124291 frameshift variant TGGG/- del 4
rs150857132
CRYGD ; LOC100507443
0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06 4
rs398122944
LOC100507443 ; CRYGC
0.851 0.200 2 208128257 stop gained C/G;T snv 4