rs370114048, 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 0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2016 2016