rs181327458, SCN2A

N. diseases: 2
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, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
65 0.925 0.080 2 165310448 stop gained C/A;T snv 4.0E-06 0.700 0
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
46 0.925 0.080 2 165310448 stop gained C/A;T snv 4.0E-06 0.700 0