NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Atrial Septal Defect with Atrioventricular Conduction Defects ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72554028
rs72554028 		0.925 0.120 5 173233001 missense variant C/G;T snv 7.5E-03
CUI: C3502353
Disease: Atrial Septal Defect with Atrioventricular Conduction Defects
Atrial Septal Defect with Atrioventricular Conduction Defects 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2014 2014