Disease: Ventricular Septal Defects
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs1554643168
PUF60
0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 7