DisGeNET - a database of gene-disease associations

Febrile Convulsions, C0009952

Variant: rs142740233 ×

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:

rs142740233

rs142740233

SLC12A5

0.010

GeneticVariation

BEFREE

Our data suggest that KCC2-R952H is a bona fide susceptibility variant for febrile seizures.

2014