Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519087
MFSD2A
0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 4
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs1060502227
SPAST
0.851 0.120 2 32136593 missense variant C/G;T snv 6
rs1553546045
PTH2R
0.925 0.200 2 208442425 missense variant C/T snv 5
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
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
rs587777585
VARS2
0.882 6 30918851 missense variant C/G;T snv 2.4E-05 6
rs730882147
MED20
0.851 0.080 6 41909351 missense variant C/G snv 7.0E-06 5
rs895293055
MED20
0.851 0.080 6 41909351 frameshift variant C/- delins 5
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1057516049
KAT6A
0.851 0.040 8 41933963 frameshift variant CACT/- delins 7
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 11
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 6
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs1555119899
ATM ; C11orf65
0.925 0.240 11 108326149 missense variant G/C snv 7
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
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
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18