DisGeNET - a database of gene-disease associations

HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME, C4310618

Variant: rs1057519520 ×

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:

rs1057519520

rs1057519520

EBF3

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1057519520

rs1057519520

EBF3

A

0.800

CausalMutation

CLINVAR