NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT 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: rs104893900
rs104893900 		1.000 5 173233011 missense variant G/A snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.800 1.000 5 1998 2005
dbSNP: rs104893906
rs104893906 		1.000 5 173232976 missense variant G/A snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.800 1.000 5 1998 2005
dbSNP: rs137852683
rs137852683 		0.925 5 173232648 missense variant T/C snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.800 1.000 5 1998 2005
dbSNP: rs387906773
rs387906773 		1.000 5 173235040 missense variant T/A snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.800 1.000 5 1998 2005
dbSNP: rs387906774
rs387906774 		1.000 5 173233164 missense variant G/C;T snv 4.3E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.800 1.000 5 1998 2005
dbSNP: rs104893902
rs104893902 		0.925 0.080 5 173232888 missense variant G/A snv 7.0E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs104893904
rs104893904 		0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs104893905
rs104893905 		0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs1223599871
rs1223599871 		1.000 5 173232708 missense variant G/A snv 4.1E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs137852686
rs137852686 		0.851 0.080 5 173232997 missense variant T/C snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs368366482
rs368366482 		1.000 5 173232721 missense variant G/A;C;T snv 4.2E-06; 9.7E-05
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs530270916
rs530270916 		1.000 5 173234896 missense variant G/A;T snv 1.8E-05; 4.4E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs753937287
rs753937287 		1.000 5 173234933 missense variant A/G snv 4.2E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs760528062
rs760528062 		1.000 5 173232868 missense variant C/T snv 4.3E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs779548360
rs779548360 		1.000 5 173234951 missense variant A/C;G snv 4.2E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs1561619801
rs1561619801 		1.000 5 173233168 frameshift variant -/T delins
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 4 1998 2011
dbSNP: rs1561621507
rs1561621507 		1.000 5 173234921 frameshift variant CCTCTGGCTTGAAGGCG/AGGAGGC delins
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 4 1998 2011
dbSNP: rs1554093461
rs1554093461 		1.000 5 173232938 frameshift variant CA/- del
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 1 2005 2005
dbSNP: rs104893901
rs104893901 		1.000 5 173233036 stop gained G/A snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 0
dbSNP: rs104893903
rs104893903 		1.000 5 173232952 stop gained G/A snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 0
dbSNP: rs104893907
rs104893907 		1.000 5 173232776 stop gained A/C;T snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 0
dbSNP: rs1184594159
rs1184594159 		1.000 5 173233147 missense variant G/A snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 0
dbSNP: rs201442000
rs201442000 		0.925 0.080 5 173235019 missense variant T/C;G snv 1.3E-04; 4.1E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 0
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 0
dbSNP: rs587782928
rs587782928 		1.000 5 173233083 missense variant T/C snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 0