Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins 8
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins 7
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del 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
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del 6
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
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins 6
rs1555642784
CNTNAP1
0.851 0.160 17 42688979 frameshift variant -/C delins 5
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
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
rs1555789140
OVOL2 ; MGME1 ; SNX5
0.882 0.120 20 17970217 frameshift variant C/- delins 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
rs730882224
PNKP
0.882 0.120 19 49861818 frameshift variant -/GTCGATGGCGACCCGTT delins 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