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
rs1131690789
RBM10
1.000 X 47181316 frameshift variant AG/- delins 2
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs1189399471
ASPM
1.000 1 197103099 frameshift variant T/- del 2
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1281877795
MTIF2
1.000 2 55249467 frameshift variant CTTTTTTCACT/- delins 2
rs1282248700
RAB3GAP1
1.000 2 135133919 frameshift variant GT/- delins 1.4E-05 2
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
rs1341894581
ECEL1
0.925 2 232486499 frameshift variant ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- delins 3.3E-04 1.1E-04 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
rs1427299519
ASXL1
1.000 20 32433315 stop gained C/T snv 8.0E-06 1.4E-05 2
rs143745703
GUCY2D
1.000 17 8003979 stop gained C/G;T snv 2
rs1462161137
METTL23
1.000 17 76733042 frameshift variant -/A delins 7.0E-06 3
rs147334255
MN1
1.000 22 27750995 stop gained G/A snv 3
rs1553182933
NFIA
1.000 1 61404103 splice acceptor variant G/A snv 2
rs1553212626
POGZ
1.000 1 151406151 frameshift variant -/A delins 3