rs797044927, 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.
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.925 0.080 2 165388746 missense variant G/A snv 0.010 1.000 1 2011 2011
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.080 2 165388746 missense variant G/A snv 0.010 1.000 1 2011 2011
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
32 0.925 0.080 2 165388746 missense variant G/A snv 0.010 1.000 1 2011 2011