NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder) ×
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: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0