Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1463326176
LOC100507443 ; CRYGD
0.851 0.200 2 208124291 frameshift variant TGGG/- del 4
rs121917869
MIP
0.851 0.080 12 56453715 missense variant T/C;G snv 4
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs778791846
SMO
0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05 4
rs17175798
ANKRD34C-AS1
0.925 0.040 15 79171618 intron variant C/A;T snv 3
rs1215603718
AQP1
0.882 0.080 7 30922217 missense variant G/A snv 4.2E-06 3
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
rs121912973
CRYAA ; LOC107987300
0.882 0.040 21 43172105 missense variant G/A snv 3
rs74315441
CRYAA ; LOC107987300
0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06 3
rs370803064
CRYAB
0.925 0.200 11 111908781 missense variant C/T snv 4.0E-06 7.0E-06 3
rs534473091
CRYAB
0.882 0.040 11 111908925 missense variant G/A snv 2.0E-05 4.9E-05 3
rs398122392
CRYGC ; LOC100507443
0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 3
rs121909598
CRYGD ; LOC100507443
0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06 3
rs398122937
GJA3
0.882 0.040 13 20142862 missense variant C/T snv 3
rs864309688
GJA8
0.882 0.200 1 147908089 missense variant G/C snv 7.0E-06 3
rs781902168
HSPB2 ; CRYAB ; HSPB2-C11orf52
0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05 3
rs587783070
IARS2
0.925 0.040 1 220143109 missense variant C/T snv 3
rs121909595
LOC100507443 ; CRYGD
0.925 0.040 2 208124321 missense variant G/A snv 3
rs121909596
LOC100507443 ; CRYGD
0.925 0.040 2 208124188 missense variant C/T snv 3
rs398122947
LOC107987300 ; CRYAA
0.882 0.040 21 43170619 missense variant G/A snv 3
rs644242
PAX6
0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 3
rs2101521
TLR1
0.925 0.080 4 38809930 intron variant G/A;T snv 3
rs765019311
AVP
0.925 0.040 20 3082716 missense variant C/A;G;T snv 2
rs377423839
BFSP2
0.925 0.080 3 133400418 missense variant G/A snv 5.2E-05 1.4E-05 2