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: 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: 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: rs386834034
rs386834034
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: rs558269137
rs558269137
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2006 2006
dbSNP: rs752746786
rs752746786
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2016 2016
dbSNP: rs869312822
rs869312822
0.827 0.200 1 1806514 missense variant A/C snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2016 2016
dbSNP: rs869312823
rs869312823
0.882 0.080 1 1806509 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
0.827 0.200 1 1804565 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2016 2016
dbSNP: rs869312825
rs869312825
0.827 0.120 1 1804548 start lost T/C snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2016 2016
dbSNP: rs869312826
rs869312826
0.882 0.080 1 1787378 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2016 2016
dbSNP: rs1057518821
rs1057518821
1.000 1 42930671 frameshift variant -/C delins
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: rs1135401733
rs1135401733
1.000 0.040 1 244856757 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs139073416
rs139073416
0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1553196101
rs1553196101
0.925 0.080 1 22086507 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1553212868
rs1553212868
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1557569831
rs1557569831
0.925 0.120 1 43431458 splice acceptor variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1557612048
rs1557612048
0.807 0.200 1 26767868 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs375761808
rs375761808
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs730882243
rs730882243
1.000 0.120 1 215602099 frameshift variant CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- del
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs746200792
rs746200792
0.925 0.120 1 43437254 inframe deletion TGT/- delins
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs757511770
rs757511770
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 0