NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Congenital Heart 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: rs397516908
rs397516908 		5 173233142 frameshift variant CCG/AT delins
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 1998 1999
dbSNP: rs876657934
rs876657934 		5 173233212 splice region variant G/C snv
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0