A study has found that the rs2275289 (p.R129W) single nucleotide polymorphism in BVES reduces its own expression and likely decreases the expression of NKX2.5 and GATA4 [141], and in studies involving bves knockdown zebrafish, abnormal annularization and ventricular OFT stenosis were observed, in addition to reduced nkx2.5 and gata4 expression levels, causing the manifestation of TOF, a congenital heart disease [66]. The gene discussed is NKX2-5; the disease is congenital heart disease.