Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1335702493
APTX
0.925 0.200 9 32973507 stop gained C/A;T snv 4
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv 3
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
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
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
rs121908217
CACNA1A
0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 9
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv 5
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins 7
rs771578775
COQ8A
1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 3
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs3512
FAN1 ; MTMR10
0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 4
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 6
rs1057518988
GRIN2B
0.925 0.040 12 13571859 missense variant T/C snv 3
rs876661219
GRIN2B
1.000 12 13571891 missense variant A/C;G snv 2
rs118204095
HMBS
1.000 0.160 11 119091414 missense variant G/A;T snv 4.5E-05 3
rs118204096
HMBS
1.000 0.160 11 119091432 missense variant G/A snv 3
rs587777004
HNRNPU ; COX20
1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 3
rs28933383
KCNA1
0.851 0.120 12 4912055 missense variant C/A;G;T snv 8
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv 4