Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
Source: UNIPROT ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 5
rs104893902
NKX2-5
0.925 0.080 5 173232888 missense variant G/A snv 7.0E-06 2
rs104893904
NKX2-5
0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 2
rs104893905
NKX2-5
0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06 2
rs201442000
NKX2-5
0.925 0.080 5 173235019 missense variant T/C;G snv 1.3E-04; 4.1E-06 2