Disease: Bilateral cataracts (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5030732
UCHL1 ; UCHL1-AS1
0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 10
rs587778872
CRYGC ; LOC100507443
0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 6
rs74315441
CRYAA ; LOC107987300
0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06 3
rs750872744
CRYGC ; LOC100507443
0.925 0.040 2 208128325 stop gained C/A;T snv 3.6E-05 2
rs781902168
HSPB2 ; CRYAB ; HSPB2-C11orf52
0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05 3
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
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
rs930526408
BFSP2 ; BFSP2-AS1
0.925 0.040 3 133472412 missense variant G/A;T snv 2
rs1463326176
LOC100507443 ; CRYGD
0.851 0.200 2 208124291 frameshift variant TGGG/- del 4