Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201920319
THG1L
0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04 4
rs267607232
MED17
0.925 11 93796509 missense variant T/C snv 2
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs371707121
NUP93
1.000 16 56834199 missense variant C/T snv 2.0E-05 1.2E-04 1
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs58332872
NEFL
0.882 0.080 8 24956248 missense variant C/T snv 5
rs587777186
PIGN
0.925 18 62146023 missense variant A/G;T snv 3
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
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 10
rs622288
MSTO1 ; LOC105371452
0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 15
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv 17
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs63751287
PSEN1
0.742 0.120 14 73192792 missense variant A/G;T snv 13
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv 7
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv 6
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv 7
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
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins 6
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
rs746194271
SACS
1.000 13 23331188 missense variant C/A;T snv 8.0E-06 1
rs747176196
MFN2
1.000 1 11989329 missense variant C/T snv 4.0E-06; 1.6E-05 3