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: rs587776973
rs587776973
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: rs776095655
rs776095655
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 3 2011 2015
dbSNP: rs796052653
rs796052653
0.925 20 63413526 missense variant C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 3 2013 2015
dbSNP: rs864309661
rs864309661
1.000 0.080 X 49077715 inframe deletion CCA/- delins
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 3 2012 2013
dbSNP: rs1057524157
rs1057524157
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2017 2017
dbSNP: rs1064795104
rs1064795104
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2013 2014
dbSNP: rs113994098
rs113994098
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2002 2011
dbSNP: rs1555889162
rs1555889162
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2017 2017
dbSNP: rs201257588
rs201257588
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
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: rs398122965
rs398122965
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966
0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2014 2014
dbSNP: rs398122967
rs398122967
0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2014 2014
dbSNP: rs587777219
rs587777219
0.925 20 63442428 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2012 2015
dbSNP: rs587784440
rs587784440
0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2013 2015
dbSNP: rs747821285
rs747821285
0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2014 2014
dbSNP: rs778573169
rs778573169
1.000 0.080 15 89319225 splice region variant T/A;C snv 4.0E-05
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2011 2013
dbSNP: rs797044548
rs797044548
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2014 2014
dbSNP: rs869320624
rs869320624
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 2 2016 2017
dbSNP: rs104894483
rs104894483
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: rs1057516032
rs1057516032
1.000 19 41970211 protein altering variant AGTCT/GA delins
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2016 2016
dbSNP: rs1057519463
rs1057519463
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2014 2014
dbSNP: rs1057519467
rs1057519467
0.925 0.160 15 72345540 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2012 2012