Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
C 0.810 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586

2015
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
0.810 GeneticVariation BEFREE DNA analysis of the TFAP2A gene associated with BOFS using DNA sequencing detected a mutation [c.763A>G (p.Arg255Gly)] in two unrelated patients. 20358615

2010
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
0.810 GeneticVariation UNIPROT TFAP2A mutations result in branchio-oculo-facial syndrome. 18423521

2008