Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs121434341
CHD7
0.807 0.360 8 60855993 missense variant C/A;T snv 10
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1555493029
COG7
0.851 0.240 16 23406263 splice acceptor variant C/A snv 10
rs1555497604
COG7
0.851 0.240 16 23452993 start lost A/G snv 10
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 8
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 10
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins 9
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs1085307451
DHX30 ; MIR1226
0.925 0.160 3 47848246 missense variant C/T snv 4
rs1561273261
DIMT1 ; KIF2A
0.790 0.160 5 62361307 missense variant G/A snv 17
rs886039812
DYNC2H1
0.882 0.160 11 103155395 missense variant T/G snv 7
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv 6
rs797046136
EBF3 ; LOC105378558
10 129848391 splice donor variant C/A snv 1
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38