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
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
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
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
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
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
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 10
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv 8
rs28933383
KCNA1
0.851 0.120 12 4912055 missense variant C/A;G;T snv 8
rs121918544
TINF2
0.827 0.200 14 24240635 missense variant C/T snv 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
rs74315402
PRNP
0.882 0.200 20 4699570 missense variant C/T snv 7
rs137852763
MRE11
0.851 0.320 11 94476318 missense variant C/G snv 6
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins 6
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 6
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv 5
rs1553878395
SEPSECS
0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 5