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
rs1131690789
RBM10
1.000 X 47181316 frameshift variant AG/- delins 2
rs1189399471
ASPM
1.000 1 197103099 frameshift variant T/- del 2
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
rs1318353774
CACNA1A
1.000 19 13298827 stop gained G/A;C snv 2
rs1348467293
GUCY2D
1.000 17 8007529 splice donor variant G/A snv 4.0E-06 7.0E-06 2
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
rs1553182933
NFIA
1.000 1 61404103 splice acceptor variant G/A snv 2
rs1553227742
ASPM
1.000 1 197142866 stop gained G/C snv 2
rs1553234339
COL11A1
1.000 1 103012412 splice donor variant C/T snv 2
rs1553263326
NTRK1
1.000 1 156881446 intron variant G/A snv 2
rs1553326645
ASPM
1.000 1 197094181 splice acceptor variant C/G snv 2
rs1553551705
SATB2
1.000 2 199349065 frameshift variant GT/- delins 2
rs1553878198
RBPJ
1.000 4 26406245 missense variant C/G snv 2
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
rs1554602465
CHD7
0.882 0.080 8 60845063 missense variant G/A snv 2
rs1554643598
PUF60
1.000 8 143818507 frameshift variant C/- delins 2
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