rs587784440, SPTAN1

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.
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins 0.700 1.000 2 2013 2015
Epilepsies, Partial
CUI: C0014547
Disease: Epilepsies, Partial
23 0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
6 0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins 0.700 0