Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs3825942
LOXL1 ; LOXL1-AS1
0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 15
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 12
rs1554781700
COL5A1
0.851 0.240 9 134701287 missense variant G/T snv 12
rs33972313
SLC23A1
0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 8
rs727502810
RIC3 ; TUB
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 8
rs6596473
SLC23A1
0.807 0.120 5 139374887 intron variant G/C;T snv 7
rs1063147
BLM
0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 6
rs1339616347
WRN
0.925 0.120 8 31068328 splice donor variant G/T snv 6
rs28931605
LOC100507443 ; CRYGD
0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 6
rs587778872
CRYGC ; LOC100507443
0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 6
rs104893736
CRYGS
0.827 0.040 3 186539566 missense variant C/A snv 5
rs1050829
G6PD
0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 5
rs387907338
HSPB2-C11orf52 ; HSPB2 ; CRYAB
0.827 0.200 11 111911559 missense variant G/A;T snv 5
rs80338829
MYH9
0.851 0.200 22 36295069 missense variant G/A snv 5
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs1114167307
GJA3
0.851 0.200 13 20143233 missense variant G/A snv 4
rs121917869
MIP
0.851 0.080 12 56453715 missense variant T/C;G snv 4
rs1303044966
ABHD12
0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 4
rs137853924
LOC100507443 ; CRYGC
0.851 0.200 2 208128343 missense variant C/A;T 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
rs387907339
CRYAB
0.882 0.280 11 111908967 missense variant C/A;G snv 4