Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins 7
rs201128942
SNX14
0.851 0.120 6 85547112 stop gained C/A;T snv 2.4E-05 4.2E-05 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
rs730882224
PNKP
0.882 0.120 19 49861818 frameshift variant -/GTCGATGGCGACCCGTT delins 3
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
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
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv 10
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del 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
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
rs587777721
SCN8A
0.925 0.160 12 51806336 missense variant G/A snv 4
rs1131692036
ELOVL4
0.925 0.160 6 79916817 missense variant A/C snv 2
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
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
rs587777598
ELOVL4
0.851 0.200 6 79921662 missense variant C/G;T snv 4
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23