rs1555228665, SCN8A

N. diseases: 4
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.
Choreoathetosis
CUI: C0085583
Disease: Choreoathetosis
9 0.882 0.080 12 51788702 missense variant T/C snv 0.700 0
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.882 0.080 12 51788702 missense variant T/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 12 51788702 missense variant T/C snv 0.700 0
Leukoencephalopathy
CUI: C0270612
Disease: Leukoencephalopathy
17 0.882 0.080 12 51788702 missense variant T/C snv 0.700 0