rs879253767, SCN2A

N. diseases: 6
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
65 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0