Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151344525
rs151344525
TFAP2A ; TFAP2A-AS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586

2015
dbSNP: rs151344525
rs151344525
TFAP2A ; TFAP2A-AS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 23578821

2013
dbSNP: rs151344525
rs151344525
TFAP2A ; TFAP2A-AS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 21204207

2011
dbSNP: rs151344525
rs151344525
TFAP2A ; TFAP2A-AS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. 20358615

2010
dbSNP: rs151344525
rs151344525
TFAP2A ; TFAP2A-AS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. 19764023

2009
dbSNP: rs151344525
rs151344525
TFAP2A ; TFAP2A-AS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Further delineation of the branchio-oculo-facial syndrome. 7747785

1995