Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs1208636573
MSTO1 ; LOC105371452
0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 15
rs622288
MSTO1 ; LOC105371452
0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 15
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 8
rs1555119899
ATM ; C11orf65
0.925 0.240 11 108326149 missense variant G/C snv 7
rs74315402
PRNP
0.882 0.200 20 4699570 missense variant C/T snv 7
rs886039904
GJC2
0.851 0.200 1 228157836 frameshift variant G/- del 6
rs1563390893
CA8
0.851 0.200 8 60281047 splice donor variant C/T snv 5
rs772410450
KARS1
0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 5
rs201128942
SNX14
0.851 0.120 6 85547112 stop gained C/A;T snv 2.4E-05 4.2E-05 5
rs773819452
ECD
0.851 0.200 10 73160449 missense variant G/A snv 4.2E-06 4
rs770499406
ERCC8
0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06 4
rs104894699
KCNC3
0.925 0.120 19 50323694 missense variant C/T snv 4
rs1555789140
OVOL2 ; MGME1 ; SNX5
0.882 0.120 20 17970217 frameshift variant C/- delins 4
rs121908215
CACNA1A
0.882 0.160 19 13359707 missense variant C/T snv 3
rs387906881
GOSR2 ; LRRC37A2
0.925 0.120 17 46935122 missense variant G/T snv 6.0E-05 8.4E-05 3
rs797044872
KCNC3
0.882 0.200 19 50323685 missense variant C/T snv 3
rs121908220
CACNA1A
0.925 0.120 19 13235685 missense variant G/A snv 2
rs121908236
CACNA1A
0.925 0.160 19 13359724 missense variant C/T snv 2