rs121909674, GABRG2

N. diseases: 8
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.
FEBRILE CONVULSIONS, FAMILIAL, 8
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
13 0.790 0.080 5 162153132 stop gained C/T snv 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.790 0.080 5 162153132 stop gained C/T snv 0.030 0.667 3 2015 2017
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.790 0.080 5 162153132 stop gained C/T snv 0.030 1.000 3 2015 2017
Absence Epilepsy
CUI: C0014553
Disease: Absence Epilepsy
17 0.790 0.080 5 162153132 stop gained C/T snv 0.010 1.000 1 2016 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.790 0.080 5 162153132 stop gained C/T snv 0.010 1.000 1 2016 2016
Epileptic Syndromes
CUI: C4505072
Disease: Epileptic Syndromes
2 0.790 0.080 5 162153132 stop gained C/T snv 0.010 1.000 1 2017 2017
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.790 0.080 5 162153132 stop gained C/T snv 0.010 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.080 5 162153132 stop gained C/T snv 0.010 1.000 1 2017 2017