Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 8
rs143044921
FREM2
0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 8
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 8
rs587777710
GATA6
0.807 0.160 18 22171856 stop gained G/T snv 8
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 7
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv 7
rs1554643168
PUF60
0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 7
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv 6
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 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
rs6785358 0.882 0.200 3 30602723 upstream gene variant G/A snv 0.84 4
rs1565569158
ATN1
12 6939148 missense variant A/G snv 4
rs1114167294
FOXP4
0.925 6 41587455 frameshift variant T/- del 4
rs56208331
GATA4
0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 4
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
rs1555226315
TBX5
0.925 0.120 12 114398639 stop gained C/T snv 4
rs181317402
CERS1 ; GDF1
0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 3
rs1057518868
FOXF1 ; FENDRR
0.925 0.080 16 86510849 missense variant A/T snv 3
rs4841587
GATA4
1.000 0.080 8 11756666 non coding transcript exon variant G/T snv 0.37 3