Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs120074125
SMPD1
0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 7
rs121908681
PLA2G6
0.851 0.160 22 38120867 missense variant T/C;G snv 2.4E-05 7
rs121918544
TINF2
0.827 0.200 14 24240635 missense variant C/T snv 7
rs137853066
KCNJ10
0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06 7
rs1554555063
TMEM67
0.882 0.160 8 93791324 splice region variant G/A snv 7
rs1564617866
POLR3A
0.925 0.200 10 78000983 missense variant T/G snv 7
rs74315402
PRNP
0.882 0.200 20 4699570 missense variant C/T snv 7
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs80338700
PMM2
0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 7
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 6
rs1114167423
APTX
0.882 0.240 9 32984704 stop gained T/A snv 6
rs137852763
MRE11
0.851 0.320 11 94476318 missense variant C/G snv 6
rs1554943158
DEAF1
0.882 0.040 11 681045 inframe deletion CTT/- delins 6
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv 6
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 6
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1057518965
ATM
0.882 0.320 11 108244812 frameshift variant A/- delins 5
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv 5
rs141659620
SPG7
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06 5