rs869312966, 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.
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.827 0.120 12 51806345 missense variant G/T snv 0.700 1.000 26 1995 2017
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.827 0.120 12 51806345 missense variant G/T snv 0.010 1.000 1 2019 2019
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.827 0.120 12 51806345 missense variant G/T snv 0.010 1.000 1 2019 2019
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.827 0.120 12 51806345 missense variant G/T snv 0.010 1.000 1 2019 2019
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.827 0.120 12 51806345 missense variant G/T snv 0.010 1.000 1 2019 2019
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.827 0.120 12 51806345 missense variant G/T snv 0.010 1.000 1 2019 2019
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.827 0.120 12 51806345 missense variant G/T snv 0.010 1.000 1 2019 2019