DisGeNET - a database of gene-disease associations

SCN9A, sodium voltage-gated channel alpha subunit 9, 6335

N. diseases: 213; N. variants: 70

Disease: Epilepsy, Rolandic ×

Variant: rs180922748 ×

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:

rs180922748

rs180922748

Entrez Id:	6335;101929680
Gene Symbol:	SCN9A;SCN1A-AS1

SCN9A;SCN1A-AS1

CUI:	C0376532
Disease:

Epilepsy, Rolandic

C

0.700

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

2018