rs866024579, NKX2-5

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
0.010 GeneticVariation BEFREE In addition to nine synonymous changes, we identified two known (A411V and D425N) and two novel putative mutations (G69D and P163R) in five patients with atrial or ventricular septal defects that were not seen in control subjects. 20874241 2010