Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv 17
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1208636573
MSTO1 ; LOC105371452
0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 15
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs63751287
PSEN1
0.742 0.120 14 73192792 missense variant A/G;T snv 13
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
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 10
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
rs863223953
YARS2 ; DNM1L
0.776 0.240 12 32731362 missense variant C/T snv 10
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G 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