NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: VENTRICULAR SEPTAL DEFECT 3 ×
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: rs375086983
rs375086983 		1.000 5 173232696 missense variant G/A;T snv 4.5E-05
CUI: C3280785
Disease: VENTRICULAR SEPTAL DEFECT 3
VENTRICULAR SEPTAL DEFECT 3 		0.700 1.000 2 2010 2011
dbSNP: rs387906775
rs387906775 		0.925 0.080 5 173234909 missense variant G/C snv
CUI: C3280785
Disease: VENTRICULAR SEPTAL DEFECT 3
VENTRICULAR SEPTAL DEFECT 3 		0.700 1.000 2 2010 2011