rs771844443, SCN2A

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.
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 1.000 0.040 2 165309194 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
Neonatal encephalopathy
CUI: C0235820
Disease: Neonatal encephalopathy
10 1.000 0.040 2 165309194 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.040 2 165309194 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018