Disease: Bilateral cataracts (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs398122392
CRYGC ; LOC100507443
0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 3
rs398122937
GJA3
0.882 0.040 13 20142862 missense variant C/T snv 3
rs74315441
CRYAA ; LOC107987300
0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06 3
rs781902168
HSPB2 ; CRYAB ; HSPB2-C11orf52
0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05 3
rs1250875000
CRYAA2 ; LOC102724843 ; LOC102724701
0.925 0.040 21 6560927 missense variant C/A;T snv 2
rs140372256
CRYGA
0.925 0.040 2 208160859 stop gained C/A;G;T snv 1.5E-04; 1.6E-05; 4.0E-06 2
rs1483130765
CRYGS
0.925 0.040 3 186538833 stop gained C/A snv 7.0E-06 2
rs375933774
CRYAB ; HSPB2-C11orf52 ; HSPB2
0.925 0.040 11 111911691 missense variant G/A snv 2.3E-05 3.5E-05 2
rs750872744
CRYGC ; LOC100507443
0.925 0.040 2 208128325 stop gained C/A;T snv 3.6E-05 2
rs930526408
BFSP2 ; BFSP2-AS1
0.925 0.040 3 133472412 missense variant G/A;T snv 2