Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1114167297
KIF5B
0.851 0.160 10 32019912 missense variant T/C snv 5
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins 8
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
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
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs1223073957
MED25
0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 12
rs776291104
MED25
0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 12
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 8
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv 6
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del 6
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv 6