Disease: Seizures
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9
rs1105879
UGT1A9 ; UGT1A6 ; UGT1A7 ; UGT1A10 ; UGT1A8
0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 11
rs1130183
KCNJ10
0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02 6
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs117067974
KCNQ2
0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 5
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 9
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121908225
CACNA1A
0.790 0.120 19 13365448 missense variant G/A snv 12
rs121909674
GABRG2
0.790 0.080 5 162153132 stop gained C/T snv 8
rs121909731
GLUD1
0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 7
rs121912707
ALDH7A1
0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 3
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs121918622
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 9
rs121918799
SCN1A-AS1 ; SCN1A ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 14
rs145999922
SLC19A3
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 5
rs1553709380
ATP6V1A
0.925 0.040 3 113778833 missense variant C/G snv 3
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs1799971
OPRM1
0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 95
rs1800497
ANKK1
0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 56
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140