Disease: Pulmonary Stenosis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 8
rs754369510
NUP214
0.925 0.040 9 131134988 missense variant A/G snv 4.0E-06 3