Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28931605
LOC100507443 ; CRYGD
0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 2
rs1554985722
PAX6
0.925 0.200 11 31802714 missense variant C/G snv 2
rs864309690
VIM ; VIM-AS1
0.925 0.200 10 17229436 frameshift variant C/- delins 2
rs864309680
BCOR
1.000 0.200 X 40062174 frameshift variant TCTC/- del 1
rs864309702
BCOR
1.000 0.200 X 40074207 frameshift variant AACT/- delins 1
rs397515626
CRYAA ; LOC107987300
0.925 0.200 21 43169161 missense variant G/A snv 1.2E-05 1
rs74315439
CRYAA ; LOC107987300
0.790 0.200 21 43172104 missense variant C/A;T snv 1
rs144451841
CRYAB
1.000 0.200 11 111910331 missense variant C/A;T snv 1.2E-05 1
rs387907339
CRYAB
0.882 0.280 11 111908967 missense variant C/A;G snv 1
rs864309682
CRYBA4 ; CRYBB1
1.000 0.200 22 26607953 missense variant C/T snv 4.0E-06 1
rs147344332
CRYBB2
1.000 0.200 22 25231737 missense variant T/G snv 1.1E-04 7.0E-05 1
rs864309683
CRYBB2
1.000 0.200 22 25231710 missense variant T/C snv 1
rs864309700
CRYBB3
1.000 0.200 22 25207210 stop lost T/C snv 1
rs139353014
CRYGA
1.000 0.200 2 208163217 missense variant C/T snv 3.9E-03 2.3E-03 1
rs864309689
CRYGC ; LOC100507443
1.000 0.200 2 208128399 frameshift variant GG/A delins 1
rs864309701
CRYGD ; LOC100507443
1.000 0.200 2 208121749 frameshift variant -/C delins 1
rs1114167312
CRYGS
1.000 0.200 3 186539588 missense variant AG/TT mnv 1
rs1114167313
GCNT2
1.000 0.200 6 10626489 missense variant T/C snv 1
rs1114167314
GCNT2
1.000 0.200 6 10626564 frameshift variant ATCA/- delins 1
rs1114167307
GJA3
0.851 0.200 13 20143233 missense variant G/A snv 1
rs1114167308
GJA3
1.000 0.200 13 20142823 missense variant T/G snv 1
rs397514704
GJA3
0.925 0.200 13 20142673 missense variant A/T snv 1
rs864309687
GJA3
0.925 0.200 13 20143029 missense variant G/A snv 1
rs864309694
GJA3
1.000 0.200 13 20143282 missense variant C/G snv 1
rs1114167309
GJA8
1.000 0.200 1 147908028 missense variant T/C snv 1