Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs868973240
MECP2
1.000 0.040 X 154032314 synonymous variant G/A snv 1
rs80359826
SLC2A1
0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 7
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs80356617
KCNJ11
0.882 0.160 11 17387916 missense variant A/C snv 3
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 19
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv 17
rs79761183
EFHC1
0.925 0.040 6 52452776 missense variant G/A;C snv 2.0E-03; 8.0E-06; 1.2E-05 7.6E-03 2
rs797044927
SCN2A
0.925 0.080 2 165388746 missense variant G/A snv 3
rs796053229
SCN8A
0.882 0.160 12 51807101 missense variant G/A;T snv 4.0E-06 3
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv 4
rs796053134
SCN2A
0.827 0.080 2 165374737 missense variant T/C snv 5
rs796053124
SCN2A
0.882 0.080 2 165354232 missense variant G/T snv 4
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs796052549
GRIN2A ; LOC105371077
0.925 0.040 16 9798442 missense variant C/G;T snv 2
rs796052504
GABRG2
0.925 0.080 5 162097716 stop gained C/T snv 2
rs796052493
GABRA1
0.851 0.040 5 161895668 missense variant G/A;T snv 4
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins 9
rs79007183
CRAMP1
1.000 0.040 16 1655793 intron variant G/A snv 2.8E-05 2
rs786205866
EEF1A2
0.807 0.160 20 63495062 missense variant C/T snv 7
rs779989663
GRIN2A
0.925 0.040 16 9841092 missense variant A/T snv 4.8E-05 7.0E-06 2
rs776746
CYP3A5 ; ZSCAN25
0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 21
rs773724817
KCNH2
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 4
rs771390
LOC105378639
1.000 0.040 1 34285335 intergenic variant T/A;C snv 1
rs770780950
EPHA3
0.925 0.080 3 89210112 stop gained C/T snv 4.0E-06 7.0E-06 2
rs770771659
SCN9A ; SCN1A-AS1
0.925 0.080 2 166286614 missense variant C/T snv 9.4E-05 2.8E-05 2