rs557319054, NOTCH1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bicuspid aortic valve
CUI: C0149630
Disease: Bicuspid aortic valve
0.010 GeneticVariation BEFREE Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972 2006