DisGeNET - a database of gene-disease associations

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56, C4540034

Variant: rs1554616630 ×

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:

rs1554616630

rs1554616630

YWHAG

0.800

GeneticVariation

UNIPROT

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

2017

dbSNP:

rs1554616630

rs1554616630

YWHAG

C

0.800

GeneticVariation

CLINVAR

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

2017

dbSNP:

rs1554616630

rs1554616630

YWHAG

C

0.800

CausalMutation

CLINVAR