Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv 7
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv 7
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv 6
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv 6
rs748379243
ERCC8
0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 6
rs1563390893
CA8
0.851 0.200 8 60281047 splice donor variant C/T snv 5
rs201128942
SNX14
0.851 0.120 6 85547112 stop gained C/A;T snv 2.4E-05 4.2E-05 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
rs897535441
ERCC8
0.925 0.160 5 60887521 splice acceptor variant C/G;T snv 5
rs1554107200
HARS1
0.851 0.120 5 140679127 missense variant C/A snv 4
rs201920319
THG1L
0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04 4
rs587777598
ELOVL4
0.851 0.200 6 79921662 missense variant C/G;T snv 4
rs587777721
SCN8A
0.925 0.160 12 51806336 missense variant G/A snv 4
rs587777186
PIGN
0.925 18 62146023 missense variant A/G;T snv 3
rs730882247
TMEM92
0.882 0.040 17 50277743 splice region variant A/G snv 3
rs747176196
MFN2
1.000 1 11989329 missense variant C/T snv 4.0E-06; 1.6E-05 3
rs1131692036
ELOVL4
0.925 0.160 6 79916817 missense variant A/C snv 2
rs1555558553
CACNA1G
0.925 17 50607905 missense variant A/G snv 2
rs267607232
MED17
0.925 11 93796509 missense variant T/C snv 2
rs767622491
SACS
0.925 0.280 13 23331215 missense variant G/C snv 8.0E-06 2
rs886041505
CACNA1G
0.925 17 50592063 missense variant G/A snv 2
rs929413725
PRKCG
1.000 19 53884181 stop gained C/T snv 2
rs1225198785
NUP93
1.000 16 56839030 missense variant T/G snv 7.0E-06 1