Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519439
DNAH7
1.000 0.120 2 195787135 missense variant A/G snv 5
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 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
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 6
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del 6
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv 6
rs61751035
RPS6KC1
0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 6
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv 6
rs200473652
UNC80
0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 7
rs886041094
UNC80
0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 7
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 8
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
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
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
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv 10
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs1172486173
MIR6890 ; QARS1
0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 11
rs185476065
MIR6890 ; QARS1
0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 11
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
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