Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv 6
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1208636573
MSTO1 ; LOC105371452
0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 15
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv 10
rs897535441
ERCC8
0.925 0.160 5 60887521 splice acceptor variant C/G;T snv 5
rs587777598
ELOVL4
0.851 0.200 6 79921662 missense variant C/G;T snv 4
rs622288
MSTO1 ; LOC105371452
0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 15
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs863223953
YARS2 ; DNM1L
0.776 0.240 12 32731362 missense variant C/T snv 10
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv 6
rs1563390893
CA8
0.851 0.200 8 60281047 splice donor variant C/T snv 5
rs58332872
NEFL
0.882 0.080 8 24956248 missense variant C/T snv 5
rs750331613
GRID2
0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 5
rs747176196
MFN2
1.000 1 11989329 missense variant C/T snv 4.0E-06; 1.6E-05 3
rs929413725
PRKCG
1.000 19 53884181 stop gained C/T snv 2
rs371707121
NUP93
1.000 16 56834199 missense variant C/T snv 2.0E-05 1.2E-04 1
rs952165627
FOLR1
1.000 11 72196013 stop gained C/T snv 1
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins 8
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 23
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv 7
rs587777721
SCN8A
0.925 0.160 12 51806336 missense variant G/A snv 4