Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins 8
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
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv 10
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
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs63751287
PSEN1
0.742 0.120 14 73192792 missense variant A/G;T snv 13
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14