DisGeNET - a database of gene-disease associations

Branchio-Oculo-Facial Syndrome, C0376524

Variant: rs151344528 ×

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:

rs151344528

rs151344528

TFAP2A ; TFAP2A-AS2

0.800

GeneticVariation

UNIPROT

TFAP2A mutations result in branchio-oculo-facial syndrome.

2008

dbSNP:

rs151344528

rs151344528

TFAP2A ; TFAP2A-AS2

C

0.800

CausalMutation

CLINVAR

dbSNP:

rs151344528

rs151344528

TFAP2A ; TFAP2A-AS2

A

0.800

CausalMutation

CLINVAR