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.
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
58 0.851 0.080 2 166054677 missense variant T/A snv 0.800 1.000 20 2000 2011
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.851 0.080 2 166054677 missense variant T/A snv 0.700 1.000 7 2001 2015
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
36 0.851 0.080 2 166054677 missense variant T/A snv 0.010 1.000 1 2003 2003
Generalized Epilepsy with Febrile Seizures Plus
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
13 0.851 0.080 2 166054677 missense variant T/A snv 0.010 1.000 1 2003 2003