Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555226315
TBX5
0.925 0.120 12 114398639 stop gained C/T snv 4
rs1565569158
ATN1
12 6939148 missense variant A/G snv 4
rs6785358 0.882 0.200 3 30602723 upstream gene variant G/A snv 0.84 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
rs2289263
SMAD3
0.925 0.120 15 67146869 intron variant T/G snv 0.43 3
rs387906775
NKX2-5
0.925 0.080 5 173234909 missense variant G/C snv 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
rs1555896779
GATA5
1.000 20 62473507 missense variant G/C snv 2
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
rs387906770
GATA4
1.000 8 11708439 splice acceptor variant C/A;T snv 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
rs11067075
TBX5
12 114361761 intron variant C/A snv 1.2E-03 1
rs11665469
NFATC1
18 79454468 intron variant C/T snv 0.30 1
rs1357911800
SALL4
20 51790094 missense variant T/A snv 1
rs1701
BAHCC1 ; MIR4740
17 81402198 non coding transcript exon variant C/A;G;T snv 1
rs2164331
DARS1
2 135910326 intron variant C/T snv 0.18 1
rs309143
DARS1
2 135956608 intron variant A/G snv 0.19 1
rs3762977
ISL1 ; LOC642366
5 51383180 non coding transcript exon variant A/G snv 0.15 1
rs540578824
GATA4
8 11708800 missense variant C/G;T snv 2.1E-05 1
rs6563
NOTCH1
9 136494732 3 prime UTR variant A/G snv 0.51 1