DisGeNET - a database of gene-disease associations

SEIZURES, BENIGN FAMILIAL INFANTILE, 5, C4310728

Variant: rs587780455 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587780455

SCN8A

0.800

GeneticVariation

UNIPROT

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

26677014

2016

dbSNP:

rs587780455

SCN8A

0.800

GeneticVariation

UNIPROT

Autosomal dominant SCN8A mutation with an unusually mild phenotype.

27210545

2016

dbSNP:

rs587780455

SCN8A

0.800

CausalMutation

CLINVAR