Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv 10
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins 8
rs1559307932
PDE6D
0.807 0.360 2 231737190 frameshift variant -/C ins 8
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 8
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
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 6
rs1057519439
DNAH7
1.000 0.120 2 195787135 missense variant A/G snv 5
rs1114167297
KIF5B
0.851 0.160 10 32019912 missense variant T/C snv 5
rs797045905
ZRANB3 ; RAB3GAP1
0.851 0.360 2 135164629 stop gained T/G snv 5
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 5
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs61751035
RPS6KC1
0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 6
rs1223073957
MED25
0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 12
rs886041094
UNC80
0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 7
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs200473652
UNC80
0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 7