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
rs750872744
CRYGC ; LOC100507443
0.925 0.040 2 208128325 stop gained C/A;T snv 3.6E-05 2
rs761738142
NOL3 ; HSF4
0.925 0.200 16 67169060 stop gained C/A;T snv 8.0E-06; 4.0E-06 2
rs751634469
CHMP4B ; ZNF341-AS1
1.000 0.040 20 33811532 missense variant C/A;T snv 4.2E-06; 8.5E-06 1
rs2725383
WRN
0.807 0.120 8 31075099 intron variant C/G snv 0.76 6
rs8702
KLC1
0.851 0.160 14 103686015 3 prime UTR variant C/G snv 0.61 5
rs11260867 1.000 0.040 1 16115233 regulatory region variant C/G snv 0.13 1
rs142285818
RHO
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 11
rs398122944
LOC100507443 ; CRYGC
0.851 0.200 2 208128257 stop gained C/G;T snv 4
rs370424081
UNC45B
0.925 0.040 17 35183460 missense variant C/G;T snv 6.2E-05 2
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 15
rs150516929
CRYAB
0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 8
rs1063147
BLM
0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 6
rs143810759
LIG4
0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 6
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs141638421
CRYAB
0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05 4
rs778791846
SMO
0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05 4
rs121909596
LOC100507443 ; CRYGD
0.925 0.040 2 208124188 missense variant C/T snv 3
rs121909598
CRYGD ; LOC100507443
0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06 3
rs370803064
CRYAB
0.925 0.200 11 111908781 missense variant C/T snv 4.0E-06 7.0E-06 3
rs398122937
GJA3
0.882 0.040 13 20142862 missense variant C/T snv 3
rs587783070
IARS2
0.925 0.040 1 220143109 missense variant C/T snv 3
rs74315441
CRYAA ; LOC107987300
0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06 3
rs139787163
EPHA2
0.925 0.120 1 16125271 missense variant C/T snv 4.8E-04 3.6E-04 2