rs796052493, 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 161895668 missense variant G/A;T snv 0.010 1.000 1 2016 2016
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.040 5 161895668 missense variant G/A;T snv 0.010 1.000 1 2016 2016
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.851 0.040 5 161895668 missense variant G/A;T 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 161895668 missense variant G/A;T snv 0.010 1.000 1 2016 2016