TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Disease: Branchio-Oculo-Facial Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151344528
rs151344528
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation UNIPROT TFAP2A mutations result in branchio-oculo-facial syndrome. 18423521 2008
dbSNP: rs151344528
rs151344528
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs151344528
rs151344528
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome 		A 0.800 CausalMutation CLINVAR