DisGeNET - a database of gene-disease associations

SCN8A, sodium voltage-gated channel alpha subunit 8, 6334

N. diseases: 302; N. variants: 70

Disease: Generalized tonic seizures ×

Variant: rs878853250 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs878853250

rs878853250

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C1836508
Disease:

Generalized tonic seizures

C

0.700

CausalMutation

CLINVAR