Source: CLINVAR

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: rs104894718
rs104894718
SCN1B
0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 17 1998 2016
dbSNP: rs118192226
rs118192226
KCNQ2
0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 6 1984 2015
dbSNP: rs587776973
rs587776973
DEPDC5
0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 2013 2015
dbSNP: rs1064795104
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2013 2014
dbSNP: rs201257588
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2014 2014
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2012 2015
dbSNP: rs104894483
rs104894483
CLN6
0.925 0.120 15 68214373 stop gained C/A;G;T snv 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2002 2002
dbSNP: rs1057519468
rs1057519468
HEXA
0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2014 2014
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs1554434435
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2017 2017
dbSNP: rs184953805
rs184953805
TREX1 ; ATRIP ; ATRIP-TREX1
0.882 0.200 3 48467284 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
0.827 0.240 21 37486563 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2015 2015
dbSNP: rs762374961
rs762374961
HEXA
0.925 0.160 15 72346235 stop gained C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2014 2014
dbSNP: rs773446161
rs773446161
HEXA
0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 1997 1997
dbSNP: rs797044519
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2015 2015
dbSNP: rs797044520
rs797044520
DYRK1A
0.925 21 37505442 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2015 2015
dbSNP: rs878853169
rs878853169
NBEA
1.000 0.160 13 35550528 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2018 2018
dbSNP: rs878853280
rs878853280
FRRS1L
1.000 9 109137529 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs878853281
rs878853281
FRRS1L
1.000 9 109141360 stop gained C/T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs886039261
rs886039261
DEPDC5
0.925 0.040 22 31815101 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2015 2015
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs104893851
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057517891
rs1057517891
POLG
15 89333346 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0