Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518011
TMEM240
1 1535766 missense variant C/T snv 4
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs770684782
SETX
9 132288268 stop gained G/A snv 4.0E-06 3
rs1318256630
SPTBN2
11 66708251 missense variant G/A snv 4.1E-06 2
rs373893038
TRIO
5 14387508 missense variant C/T snv 8.0E-06 4.2E-05 1
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv 23
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 25
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs74315407
PRNP
0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 15
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 17
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 12
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19