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.
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.925 0.040 20 63413574 missense variant G/A;C snv 0.800 1.000 2 2010 2013
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.925 0.040 20 63413574 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Neonatal encephalopathy
CUI: C0235820
Disease: Neonatal encephalopathy
10 0.925 0.040 20 63413574 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.040 20 63413574 missense variant G/A;C snv 0.010 1.000 1 2018 2018