DisGeNET - a database of gene-disease associations

SCN1A, sodium voltage-gated channel alpha subunit 1, 6323

N. diseases: 287; N. variants: 533

Disease: Febrile Convulsions ×

Variant: rs1553553485 ×

Source: ALL

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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:

rs1553553485

rs1553553485

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C0009952
Disease:

Febrile Convulsions

C

0.700

CausalMutation

CLINVAR