DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: EPILEPSY, CHILDHOOD ABSENCE, 1 ×

Variant: rs1057519201 ×

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:

rs1057519201

rs1057519201

GABRB3

CUI:	C1838604
Disease:	EPILEPSY, CHILDHOOD ABSENCE, 1

EPILEPSY, CHILDHOOD ABSENCE, 1

C

0.700

CausalMutation

CLINVAR

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

2017