Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555628863
GATA6
0.925 0.080 18 22172215 frameshift variant G/- delins 3
rs746503158
MTG1
1.000 0.040 10 133420125 missense variant A/G;T snv 8.0E-06; 4.0E-06 3
rs104893907
NKX2-5
1.000 5 173232776 stop gained A/C;T snv 3
rs3729753
NKX2-5
1.000 0.040 5 173232938 synonymous variant C/G snv 9.9E-03 2.2E-03 3
rs2228638
NRP1
1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02 3
rs1393297693
SRF
1.000 0.040 6 43178806 missense variant G/A snv 4.0E-06 3
rs764328696
TBX20
1.000 7 35248696 missense variant C/G;T snv 3
rs367557471
CHD7
1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05 4
rs56208331
GATA4
0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 4
rs387906816
GATA6
0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04 4
rs1340513
KDM4C
0.882 0.120 9 6977633 intron variant G/A snv 0.75 4
rs398123278
MMUT
0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 4
rs199865688
MYBPC3
0.925 0.080 11 47337496 missense variant C/T snv 1.5E-03 1.2E-03 4
rs1554093433
NKX2-5
0.925 0.080 5 173232833 stop gained G/T snv 4
rs1557962794
RIT1
0.882 0.160 1 155910693 missense variant T/G snv 4
rs762292772
SHANK3
0.882 0.160 22 50721505 frameshift variant G/-;GG delins 4
rs1555226315
TBX5
0.925 0.120 12 114398639 stop gained C/T snv 4
rs779545541
GPHN
0.882 0.120 14 66965293 missense variant C/T snv 4.0E-06 5
rs141441277
SYTL4
0.882 0.120 X 100689933 missense variant G/A snv 5.6E-04 3.8E-04 5
rs1800692
TNFRSF1A
0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71 5
rs863225119
TNNT2
0.882 0.080 1 201359632 missense variant T/A snv 5
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 6
rs143978652
MYH6
0.882 0.080 14 23393437 missense variant C/A;T snv 9.3E-04; 4.0E-06 6
rs132630297
PHF6
0.925 0.280 X 134425256 stop gained C/A;T snv 6
rs16835979
STX18-AS1
0.851 0.120 4 4633549 intron variant C/A snv 0.20 6