Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909575
rs121909575
TFAP2A ; TFAP2A-AS2
0.800 GeneticVariation UNIPROT TFAP2A mutations result in branchio-oculo-facial syndrome. 18423521

2008
dbSNP: rs121909575
rs121909575
TFAP2A ; TFAP2A-AS2
T 0.800 CausalMutation CLINVAR