Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064797092
Entrez Id: 51339
Gene Symbol: DACT1
CUI: C0265246
Townes syndrome
0.010 GeneticVariation BEFREE Together, these findings suggest that the DACT1 c.1256G>A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes-Brocks syndrome. 28054444 2017