Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607235
rs267607235
1.000 0.120 4 127921639 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2009 2012
dbSNP: rs868732642
rs868732642
4 127938782 splice donor variant C/A;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1560747815
rs1560747815
4 127939999 splice acceptor variant T/A snv
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0