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: rs1009298200
rs1009298200
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1010184002
rs1010184002
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
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: rs1057516264
rs1057516264
0.776 0.280 11 6614968 frameshift variant C/-;CC delins
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057517891
rs1057517891
15 89333346 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057518770
rs1057518770
1.000 15 25354536 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057518821
rs1057518821
1.000 1 42930671 frameshift variant -/C delins
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057518843
rs1057518843
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057518887
rs1057518887
0.925 0.160 4 25156851 splice region variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057518921
rs1057518921
1.000 X 71132465 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057518932
rs1057518932
1.000 17 44855003 missense variant T/A snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057518961
rs1057518961
0.925 0.040 14 102012450 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057518963
rs1057518963
0.851 0.200 X 68210239 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057519436
rs1057519436
0.882 0.200 3 47846550 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057519438
rs1057519438
0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057519439
rs1057519439
1.000 0.120 2 195787135 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057519440
rs1057519440
1.000 0.040 X 51744647 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057519443
rs1057519443
0.882 0.200 2 201675255 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057519444
rs1057519444
0.925 0.120 22 32518208 missense variant GG/AA mnv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057519465
rs1057519465
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057519466
rs1057519466
0.925 0.160 15 72346307 frameshift variant G/- del
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057519560
rs1057519560
1.000 2 1917264 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057524237
rs1057524237
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057524820
rs1057524820
0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1060499553
rs1060499553
0.827 0.040 5 161890983 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0