Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs1554817910
ZMIZ1
1.000 10 79216266 missense variant A/G snv 4
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs1555307370
SOX5
0.882 0.160 12 23740986 stop gained G/A snv 4
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10