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: rs397514737
rs397514737
GABRG2
0.882 0.080 5 162149153 missense variant G/A snv
CUI: C1858674
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 		0.800 1.000 0 2001 2013
dbSNP: rs397514737
rs397514737
GABRG2
0.882 0.080 5 162149153 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 2013 2015
dbSNP: rs397514737
rs397514737
GABRG2
0.882 0.080 5 162149153 missense variant G/A snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018