rs796053174, SCN2A

N. diseases: 1
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
CUI: C0543888
Disease: Epileptic encephalopathy
126 1.000 0.040 2 165310515 missense variant A/G snv 0.010 1.000 1 2016 2016