Disease: Atrioventricular Septal Defect
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4808863
CERS1 ; GDF1
0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30 5
rs1323833193
EGF
0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 4
rs137852686
NKX2-5
0.851 0.080 5 173232997 missense variant T/C snv 4
rs376621016
TBX5
0.851 0.080 12 114399553 missense variant G/A;T snv 4.0E-06 4
rs3774207
CRELD1
0.851 0.160 3 9943972 synonymous variant C/T snv 0.27 0.38 4
rs73118372
CRELD1
0.851 0.160 3 9943989 missense variant T/C;G snv 2.6E-02; 6.8E-05 4
rs755981922
CRELD1
0.851 0.160 3 9943440 missense variant G/A snv 8.0E-06 2.1E-05 4
rs9878047
CRELD1
0.851 0.160 3 9943773 intron variant T/C snv 0.38 4
rs1210124629
CRELD1
0.882 0.120 3 9944503 missense variant C/T snv 4.0E-06 7.0E-06 3
rs367652299
NFATC1
0.882 0.120 18 79411375 missense variant C/T snv 3.3E-05 2.1E-05 3
rs62096875
NFATC1
0.882 0.120 18 79410903 missense variant G/A;T snv 7.4E-04; 4.1E-06 3
rs749275495
TBX1
0.882 0.120 22 19764273 missense variant G/A snv 3.2E-05 7.0E-06 3