Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1443445
rs1443445
NTRK2
9 84919243 intron variant G/A snv 0.81
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2017 2017
dbSNP: rs2298771
rs2298771
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.040 2 166036278 missense variant C/T snv 0.73 0.74
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2012 2012
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2012 2012
dbSNP: rs11001109
rs11001109
ADK
10 74683339 intron variant A/G snv 0.68
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2015 2015
dbSNP: rs2279020
rs2279020
GABRA1
1.000 0.040 5 161895883 non coding transcript exon variant G/A snv 0.62 0.63
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2010 2010
dbSNP: rs16944
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2012 2012
dbSNP: rs7973796
rs7973796
HELLPAR
1.000 0.080 12 102202345 non coding transcript exon variant G/A snv 0.56
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2007 2007
dbSNP: rs352139
rs352139
TLR9
0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2017 2017
dbSNP: rs4869682
rs4869682
SLC1A3
1.000 0.080 5 36656616 intron variant T/G snv 0.50
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2019 2019
dbSNP: rs6295
rs6295
HTR1A
0.645 0.200 5 63962738 intron variant C/G snv 0.49
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2018 2018
dbSNP: rs3804099
rs3804099
TLR2
0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2017 2017
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2019 2019
dbSNP: rs2606345
rs2606345
CYP1A1
0.732 0.360 15 74724835 intron variant C/A snv 0.46
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2010 2010
dbSNP: rs1799821
rs1799821
CPT2
0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2014 2014
dbSNP: rs9444348
rs9444348
NT5E
6 85465856 intron variant G/A snv 0.43
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2015 2015
dbSNP: rs1006737
rs1006737
CACNA1C
0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2013 2013
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2017 2017
dbSNP: rs211037
rs211037
GABRG2
0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31
CUI: C0036572
Disease: Seizures
Seizures 		0.040 0.750 4 2010 2018
dbSNP: rs3755724
rs3755724
SYN2 ; TIMP4
0.790 0.360 3 12159406 intron variant C/T snv 0.31
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2015 2015
dbSNP: rs1024611
rs1024611 		0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2013 2013
dbSNP: rs1800497
rs1800497
ANKK1
0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2018 2018
dbSNP: rs7858819
rs7858819
SLC1A1 ; SPATA6L
1.000 0.040 9 4559892 non coding transcript exon variant C/T snv 0.25
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2016 2016
dbSNP: rs2351299
rs2351299
GABRB1
1.000 0.040 4 47141348 intron variant G/T snv 0.19
CUI: C0036572
Disease: Seizures
Seizures 		0.010 < 0.001 1 2006 2006
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2012 2012
dbSNP: rs1800629
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2012 2012