Disease: Multiple congenital anomalies
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1026300967
NTRK1
1.000 1 156868246 missense variant T/C snv 2
rs1045118320
COQ4
0.925 9 128332219 missense variant C/A snv 7.0E-06 3
rs1057517825
DERL3 ; SMARCB1
0.925 22 23834143 missense variant G/A snv 4
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs1064793083
CHD7
0.882 0.080 8 60828682 missense variant C/T snv 4
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs121434407
LOC101929270 ; GLE1
0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 5
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs121918374
PYCR1
0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05 4
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 5
rs122445110
ATRX
0.882 0.200 X 77589902 missense variant A/G snv 3
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1283368278
TBCE
1.000 1 235401503 missense variant G/C snv 7.0E-06 2
rs1304422857
UBE3B
1.000 12 109511304 splice donor variant G/A;T snv 3
rs1313319892
POGZ
1.000 1 151406306 stop gained G/A;T snv 7.0E-06 3
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1318353774
CACNA1A
1.000 19 13298827 stop gained G/A;C snv 2
rs1331331095
DHCR7
0.925 0.080 11 71435394 missense variant A/C;T snv 3
rs1348467293
GUCY2D
1.000 17 8007529 splice donor variant G/A snv 4.0E-06 7.0E-06 2
rs1376334317
STAG1
0.925 3 136473546 missense variant C/T snv 3
rs1377989582
CHD4
1.000 12 6587756 missense variant T/A;G snv 2
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11