Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918514
PRKCG
0.925 0.080 19 53889705 missense variant G/A snv 4
rs118204096
HMBS
1.000 0.160 11 119091432 missense variant G/A snv 3
rs119456965
SIL1
1.000 0.080 5 139050960 stop gained G/A snv 8.0E-06 7.0E-06 3
rs1320457487
SLC3A1
1.000 0.120 2 44301057 missense variant G/A snv 8.0E-06 3
rs267607044
SETX
1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05 3
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
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 11
rs121908217
CACNA1A
0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 9
rs121918544
TINF2
0.827 0.200 14 24240635 missense variant C/T snv 7
rs74315402
PRNP
0.882 0.200 20 4699570 missense variant C/T snv 7
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
rs201754030
TSFM
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 5
rs58332872
NEFL
0.882 0.080 8 24956248 missense variant C/T snv 5
rs587777343
STUB1 ; JMJD8
0.925 0.120 16 682232 missense variant C/T snv 5
rs104894699
KCNC3
0.925 0.120 19 50323694 missense variant C/T snv 4
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs771578775
COQ8A
1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 3
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22