Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs866024579
NKX2-5
5 173232819 missense variant C/T snv 1
rs754369510
NUP214
0.925 0.040 9 131134988 missense variant A/G snv 4.0E-06 3
rs177415
PSEN1
1.000 0.040 14 73211255 intron variant T/C;G snv 2
rs1800844
PSEN1
1.000 0.040 14 73136992 5 prime UTR variant G/A;C snv 2
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 8
rs10465885
LOC102723321 ; GJA5
0.882 0.080 1 147760632 intron variant T/A;C 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
rs1555223259
TBX5
1.000 0.080 12 114355868 stop gained G/C snv 3
rs181317402
CERS1 ; GDF1
0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 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
rs4841587
GATA4
1.000 0.080 8 11756666 non coding transcript exon variant G/T snv 0.37 3
rs4841588
GATA4
1.000 0.080 8 11756716 non coding transcript exon variant G/T snv 0.19 3
rs751484586
PITX2
0.925 0.080 4 110618487 missense variant T/C 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
rs55633527
GATA4
1.000 0.080 8 11758378 missense variant C/T snv 3.6E-03 3.2E-03 2
rs7207109
HOXB1
1.000 0.080 17 48530455 synonymous variant C/T snv 0.18 0.18 2
rs771150933
MESP1
1.000 0.080 15 89750880 stop gained G/A snv 2
rs796052728
MEF2C
1.000 0.080 5 88823746 missense variant G/A snv 2
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 6
rs1057516047
STPG4 ; TTC7A
0.882 0.120 2 47073816 stop gained C/T snv 4
rs1555226315
TBX5
0.925 0.120 12 114398639 stop gained C/T snv 4