rs121909673, GABRG2

N. diseases: 10
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.
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
10 0.776 0.080 5 162093965 missense variant G/A snv 0.800 1.000 8 2001 2015
FEBRILE CONVULSIONS, FAMILIAL, 8
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
13 0.776 0.080 5 162093965 missense variant G/A snv 0.700 1.000 8 2001 2015
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
4 0.776 0.080 5 162093965 missense variant G/A snv 0.700 1.000 1 2006 2006
Absence Epilepsy
CUI: C0014553
Disease: Absence Epilepsy
17 0.776 0.080 5 162093965 missense variant G/A snv 0.030 1.000 3 2010 2014
Childhood Absence Epilepsy
CUI: C4281785
Disease: Childhood Absence Epilepsy
13 0.776 0.080 5 162093965 missense variant G/A snv 0.020 1.000 2 2011 2014
Absence Seizures
CUI: C4316903
Disease: Absence Seizures
8 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2010 2010
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
36 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2006 2006
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2014 2014
Generalized seizures
CUI: C0234533
Disease: Generalized seizures
13 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2011 2011
Seizures
CUI: C0036572
Disease: Seizures
553 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2010 2010