rs796052491, GABRA1

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.
Early infantile epileptic encephalopathy with suppression bursts
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
10 0.851 0.040 5 161890982 missense variant T/A;C snv 0.010 1.000 1 2016 2016
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.851 0.040 5 161890982 missense variant T/A;C snv 0.010 1.000 1 2016 2016
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.851 0.040 5 161890982 missense variant T/A;C snv 0.010 1.000 1 2016 2016
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.851 0.040 5 161890982 missense variant T/A;C snv 0.010 1.000 1 2016 2016