Source: UNIPROT

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 2 2001 2013
dbSNP: rs121909673
rs121909673
GABRG2
0.776 0.080 5 162093965 missense variant G/A snv
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.800 1.000 1 2001 2015
dbSNP: rs121909672
rs121909672
GABRG2
0.882 0.080 5 162149168 missense variant A/T snv
CUI: C1858674
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 		0.700 1.000 2 2001 2013
dbSNP: rs121909673
rs121909673
GABRG2
0.776 0.080 5 162093965 missense variant G/A snv
CUI: C1858674
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 		0.700 1.000 1 2006 2006
dbSNP: rs267606837
rs267606837
GABRG2
0.851 0.080 5 162097839 missense variant C/G snv
CUI: C1858674
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 		0.700 1.000 1 2006 2006