Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs138249161
POLR3B
0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 8
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 6
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
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs770684782
SETX
9 132288268 stop gained G/A snv 4.0E-06 3
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins 6
rs267607044
SETX
1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05 3
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 11
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv 5
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14
rs121908217
CACNA1A
0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 9
rs121908225
CACNA1A
0.790 0.120 19 13365448 missense variant G/A snv 12
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
rs119456965
SIL1
1.000 0.080 5 139050960 stop gained G/A snv 8.0E-06 7.0E-06 3
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 12
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs771578775
COQ8A
1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 3
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins 7
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv 7