rs397514737, GABRG2

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
4 0.882 0.080 5 162149153 missense variant G/A snv 0.800 1.000 2 2001 2013
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.080 5 162149153 missense variant G/A snv 0.700 1.000 3 2013 2015
Epilepsy, Rolandic
CUI: C0376532
Disease: Epilepsy, Rolandic
81 0.882 0.080 5 162149153 missense variant G/A snv 0.700 1.000 1 2018 2018
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.882 0.080 5 162149153 missense variant G/A snv 0.010 1.000 1 2017 2017