rs104893904, NKX2-5

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
31 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.700 1.000 5 1998 2005
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.700 1.000 3 1999 2003
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
584 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.010 1.000 1 2014 2014
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.010 1.000 1 2015 2015
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.010 1.000 1 2015 2015
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.010 1.000 1 2015 2015