rs879255652, SCN8A

N. diseases: 7
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, BENIGN FAMILIAL INFANTILE, 5
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
6 0.807 0.120 12 51790425 stop gained G/A;T snv 0.800 1.000 2 2016 2016
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019