Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs120074125
SMPD1
0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 7
rs730882234
PTRH2
0.925 17 59697725 missense variant T/G snv 4
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
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
rs2307441
POLG
0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 6
rs1057518988
GRIN2B
0.925 0.040 12 13571859 missense variant T/C snv 3
rs797046006
SPTBN2
11 66715958 missense variant T/C snv 1
rs138249161
POLR3B
0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 8
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 5
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 6
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv 4
rs3512
FAN1 ; MTMR10
0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 4
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs118204095
HMBS
1.000 0.160 11 119091414 missense variant G/A;T snv 4.5E-05 3
rs200248046
SLC3A1
1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06 3
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 25
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
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv 7