rs796053162, 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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.080 2 165389123 missense variant G/A snv 0.700 1.000 34 1991 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
65 0.882 0.080 2 165389123 missense variant G/A snv 0.700 0
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
46 0.882 0.080 2 165389123 missense variant G/A snv 0.700 0