Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv 23
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 12
rs121908225
CACNA1A
0.790 0.120 19 13365448 missense variant G/A snv 12
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 11
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv 11
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 10
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs886037832
TWNK ; MRPL43
0.851 0.280 10 100988541 frameshift variant T/- delins 9
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv 8
rs267607116
TMEM67
0.851 0.160 8 93808861 missense variant G/A;C snv 8
rs28933383
KCNA1
0.851 0.120 12 4912055 missense variant C/A;G;T snv 8