DisGeNET - a database of gene-disease associations

Familial benign neonatal epilepsy, C0220669

Variant: rs118192193 ×

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:

rs118192193

rs118192193

KCNQ2 ; KCNQ2-AS1

0.010

GeneticVariation

BEFREE

Here we identified a novel BFNC-causing mutation (E119G) in the S1-S2 region of KV7.2.

2008