Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 10
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs863223953
YARS2 ; DNM1L
0.776 0.240 12 32731362 missense variant C/T snv 10
rs141138948
EXOSC3
0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 9
rs1555570110
MPDU1
0.827 0.240 17 7586766 missense variant A/C snv 9
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins 8
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins 7
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
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del 7
rs748379243
ERCC8
0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 6
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv 6
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del 6
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins 6
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv 6
rs1563390893
CA8
0.851 0.200 8 60281047 splice donor variant C/T snv 5
rs1555642784
CNTNAP1
0.851 0.160 17 42688979 frameshift variant -/C delins 5
rs897535441
ERCC8
0.925 0.160 5 60887521 splice acceptor variant C/G;T snv 5
rs750331613
GRID2
0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 5
rs58332872
NEFL
0.882 0.080 8 24956248 missense 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
rs587777598
ELOVL4
0.851 0.200 6 79921662 missense variant C/G;T snv 4
rs1554107200
HARS1
0.851 0.120 5 140679127 missense variant C/A snv 4