rs387906684, 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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
65 0.851 0.120 2 165367327 stop gained G/A;T snv 0.800 1.000 21 2009 2019
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
46 0.851 0.120 2 165367327 stop gained G/A;T snv 0.700 1.000 1 2009 2009
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.851 0.120 2 165367327 stop gained G/A;T snv 0.020 1.000 2 2009 2015
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.851 0.120 2 165367327 stop gained G/A;T snv 0.020 1.000 2 2009 2015