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.
Epilepsies, Partial
CUI: C0014547
Disease: Epilepsies, Partial
23 0.925 0.040 20 10284751 missense variant G/T snv 0.700 0
Mental Retardation, Psychosocial
CUI: C0025363
Disease: Mental Retardation, Psychosocial
2 0.925 0.040 20 10284751 missense variant G/T snv 0.700 0
Tonic-Clonic Epilepsy
CUI: C0014549
Disease: Tonic-Clonic Epilepsy
1 0.925 0.040 20 10284751 missense variant G/T snv 0.700 0
Unilateral Hypotonia
CUI: C0751330
Disease: Unilateral Hypotonia
1 0.925 0.040 20 10284751 missense variant G/T snv 0.700 0