rs864321650, NKX2-5

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
0.700 CausalMutation CLINVAR
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.010 GeneticVariation BEFREE Furthermore, c.182C>T, a mutation previously described in patients with cardiac defects, was detected in two non-PFO women with cryptogenic stroke. 19464101 2009
Cardiac defects
CUI: C0741916
Disease: Cardiac defects
0.010 GeneticVariation BEFREE Furthermore, c.182C>T, a mutation previously described in patients with cardiac defects, was detected in two non-PFO women with cryptogenic stroke. 19464101 2009