Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554643168
PUF60
0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 7
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv 7
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv 6
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 6
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv 5
rs10465885
LOC102723321 ; GJA5
0.882 0.080 1 147760632 intron variant T/A;C snv 4
rs1057516047
STPG4 ; TTC7A
0.882 0.120 2 47073816 stop gained C/T snv 4
rs1114167294
FOXP4
0.925 6 41587455 frameshift variant T/- del 4
rs1555226315
TBX5
0.925 0.120 12 114398639 stop gained C/T snv 4
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
rs1555223259
TBX5
1.000 0.080 12 114355868 stop gained G/C snv 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
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
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
rs1357911800
SALL4
20 51790094 missense variant T/A snv 1