rs398122854, ARX

N. diseases: 3
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, 1
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
30 0.882 0.040 X 25015657 stop gained G/C snv 0.700 0
Early infantile epileptic encephalopathy with suppression bursts
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
10 0.882 0.040 X 25015657 stop gained G/C snv 0.010 1.000 1 2010 2010
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.882 0.040 X 25015657 stop gained G/C snv 0.010 1.000 1 2010 2010