rs587777308, GABRA1

N. diseases: 14
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
9 0.763 0.040 5 161873196 missense variant G/A snv 0.800 1.000 2 2014 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.763 0.040 5 161873196 missense variant G/A snv 0.700 1.000 11 1997 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.763 0.040 5 161873196 missense variant G/A snv 0.700 1.000 11 1997 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.763 0.040 5 161873196 missense variant G/A snv 0.700 1.000 11 1997 2016
Epilepsy, Childhood Absence, Susceptibility To, 4
CUI: C1970160
Disease: Epilepsy, Childhood Absence, Susceptibility To, 4
3 0.763 0.040 5 161873196 missense variant G/A snv 0.700 1.000 3 2014 2016
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
7 0.763 0.040 5 161873196 missense variant G/A snv 0.700 1.000 3 2014 2016
Idiopathic generalized epilepsy
CUI: C0270850
Disease: Idiopathic generalized epilepsy
24 0.763 0.040 5 161873196 missense variant G/A snv 0.700 1.000 3 2014 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.763 0.040 5 161873196 missense variant G/A snv 0.700 1.000 1 2014 2014
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.763 0.040 5 161873196 missense variant G/A snv 0.020 1.000 2 2016 2019
Early infantile epileptic encephalopathy with suppression bursts
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
10 0.763 0.040 5 161873196 missense variant G/A snv 0.010 1.000 1 2016 2016
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.763 0.040 5 161873196 missense variant G/A snv 0.010 1.000 1 2016 2016
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.763 0.040 5 161873196 missense variant G/A snv 0.010 1.000 1 2019 2019
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.763 0.040 5 161873196 missense variant G/A snv 0.010 1.000 1 2016 2016
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.763 0.040 5 161873196 missense variant G/A snv 0.010 1.000 1 2016 2016