rs1060499553, GABRA1

N. diseases: 6
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 0.827 0.040 5 161890983 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.040 5 161890983 missense variant G/A snv 0.700 0
Early infantile epileptic encephalopathy with suppression bursts
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
10 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016