rs121918321, STXBP1

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, 4
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
37 0.925 0.040 9 127675855 stop gained C/T snv 0.700 1.000 2 2009 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.925 0.040 9 127675855 stop gained C/T snv 0.010 1.000 1 2009 2009