Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
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
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
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
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs1057516049
KAT6A
0.851 0.040 8 41933963 frameshift variant CACT/- delins 7
rs1555119899
ATM ; C11orf65
0.925 0.240 11 108326149 missense variant G/C snv 7
rs1060502227
SPAST
0.851 0.120 2 32136593 missense variant C/G;T snv 6
rs1555471098
CREBBP
0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 6
rs1553546045
PTH2R
0.925 0.200 2 208442425 missense variant C/T snv 5
rs730882147
MED20
0.851 0.080 6 41909351 missense variant C/G snv 7.0E-06 5
rs879253797
SPG7
0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05 5
rs895293055
MED20
0.851 0.080 6 41909351 frameshift variant C/- delins 5