Disease: Bilateral cataracts (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs104893685
BFSP2-AS1 ; BFSP2
0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 3
rs118203966
CHMP4B
0.882 0.040 20 33851064 missense variant G/A snv 3
rs121909598
CRYGD ; LOC100507443
0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06 3
rs121912973
CRYAA ; LOC107987300
0.882 0.040 21 43172105 missense variant G/A snv 3
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
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
rs104893736
CRYGS
0.827 0.040 3 186539566 missense variant C/A snv 5
rs79121622
HSF4
0.827 0.080 16 67165833 missense variant G/A snv 3.3E-04 9.8E-05 5
rs80338829
MYH9
0.851 0.200 22 36295069 missense variant G/A snv 5
rs1063147
BLM
0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 6
rs2725383
WRN
0.807 0.120 8 31075099 intron variant C/G snv 0.76 6
rs28931605
LOC100507443 ; CRYGD
0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 6
rs4733220
WRN
0.807 0.120 8 31043374 intron variant A/G snv 0.50 6