Disease: Multiple congenital anomalies
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553263326
NTRK1
1.000 1 156881446 intron variant G/A snv 2
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 6
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
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
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
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs137853229
RECQL4
0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05 5
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv 4
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
rs147334255
MN1
1.000 22 27750995 stop gained G/A snv 3
rs1553227742
ASPM
1.000 1 197142866 stop gained G/C snv 2
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv 3
rs1554117456
CPLANE1
1.000 5 37245569 stop gained C/A snv 3
rs1554189042
NSD1
1.000 5 177210101 stop gained -/AG ins 2
rs1554234424
ARID1B
1.000 6 157196295 stop gained T/A snv 2
rs1554596397
TRPS1
1.000 8 115604881 stop gained A/C snv 2
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv 4
rs1554829390
COL27A1 ; LOC105376224
1.000 9 114307746 stop gained C/T snv 2
rs1554902811
RECQL4 ; LRRC14
1.000 8 144516327 stop gained C/T snv 2
rs1555240361
MED13L
1.000 12 115966138 stop gained G/A snv 2