rs121917748, SCN2A

N. diseases: 4
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 INFANTILE, 3
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
46 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.800 1.000 16 2001 2018
Afebrile seizure
CUI: C0863106
Disease: Afebrile seizure
1 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.010 1.000 1 2002 2002
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.010 1.000 1 2002 2002
Fever
CUI: C0015967
Disease: Fever
66 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.010 1.000 1 2002 2002