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: rs758432471
rs758432471
GNB1
0.925 1 1806513 missense variant C/T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs764618040
rs764618040
PHGDH ; LOC105378936
1.000 0.040 1 119726868 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs794727870
rs794727870
SLC2A1
0.925 0.160 1 42929244 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312666
rs869312666
MTOR
0.925 0.160 1 11129789 missense variant A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312687
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312821
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs878853161
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs878853322
rs878853322
PPT1
0.925 0.160 1 40078573 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs878853323
rs878853323
PPT1
0.882 0.160 1 40092499 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs878853324
rs878853324
PPT1
0.882 0.160 1 40078579 missense variant A/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs878853325
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs886041300
rs886041300
KCNH1
1.000 0.160 1 210920032 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs886041874
rs886041874
PHGDH
1.000 0.040 1 119721323 splice donor variant T/C snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
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: rs145999922
rs145999922
SLC19A3
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs672601368
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs775835429
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs1057519439
rs1057519439
DNAH7
1.000 0.120 2 195787135 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057519443
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057519560
rs1057519560
MYT1L
1.000 2 1917264 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1060503101
rs1060503101
SCN2A
0.925 0.080 2 165388782 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs121917915
rs121917915
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs121917929
rs121917929
SCN1A ; SCN1A-AS1
0.925 0.160 2 166046970 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0