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: rs72653762
rs72653762
ABCC6
0.851 0.240 16 16202006 missense variant T/C snv 5.6E-03 4.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1569540688
rs1569540688
ABCD1 ; BCAP31
0.925 0.240 X 153725586 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs587776625
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs397514452
rs397514452
ADK
1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs886041116
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A 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: rs121912707
rs121912707
ALDH7A1
0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 8 2006 2017
dbSNP: rs121912708
rs121912708
ALDH7A1
1.000 0.040 5 126583997 stop gained G/A;C snv 6.0E-05; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs140845195
rs140845195
ALDH7A1
1.000 0.040 5 126545020 splice acceptor variant C/A;T snv 1.6E-05; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1444879414
rs1444879414
ALDH7A1
5 126595148 frameshift variant -/T delins 6.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs750693623
rs750693623
ALDH7A1
1.000 0.040 5 126595165 frameshift variant C/- del 5.6E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs778003597
rs778003597
ALDH7A1
5 126559300 frameshift variant -/G delins 8.0E-06 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1555452127
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs369160589
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs398122394
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2013 2013
dbSNP: rs1560162116
rs1560162116
ALG3
0.882 0.080 3 184242930 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1560164682
rs1560164682
ALG3
0.882 0.080 3 184245709 splice region variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1555525115
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs879253753
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs886041125
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1567230528
rs1567230528
AP4E1
1.000 15 50949824 splice acceptor variant A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1557612048
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs375761808
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
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