Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs1532268
MTRR
0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 12
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 8
rs143044921
FREM2
0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 8
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 8
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 6
rs1565569158
ATN1
12 6939148 missense variant A/G snv 4
rs56208331
GATA4
0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 4
rs1057518868
FOXF1 ; FENDRR
0.925 0.080 16 86510849 missense variant A/T snv 3
rs2228638
NRP1
1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02 3
rs387906775
NKX2-5
0.925 0.080 5 173234909 missense variant G/C snv 3
rs387906776
NKX2-5
1.000 0.080 5 173232775 missense variant G/A;C;T snv 4.2E-06; 8.4E-06 3
rs751484586
PITX2
0.925 0.080 4 110618487 missense variant T/C snv 4.0E-06 3
rs754369510
NUP214
0.925 0.040 9 131134988 missense variant A/G snv 4.0E-06 3
rs1185861796
GATA4
1.000 0.080 8 11758339 missense variant C/A snv 8.0E-06 7.0E-06 2
rs146017816
GATA4
1.000 8 11758471 missense variant C/G;T snv 7.2E-05; 1.6E-05 2
rs1555896779
GATA5
1.000 20 62473507 missense variant G/C snv 2
rs368489876
GATA4
1.000 8 11757012 missense variant G/A snv 4.4E-05 2.1E-05 2
rs55633527
GATA4
1.000 0.080 8 11758378 missense variant C/T snv 3.6E-03 3.2E-03 2
rs796052728
MEF2C
1.000 0.080 5 88823746 missense variant G/A snv 2