Disease: Multiple congenital anomalies
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 9
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs80338677
MAN2B1
0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 4
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs1350201776
ZNF335
20 45952244 missense variant C/T snv 4.0E-06 3
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins 3
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins 3
rs1555046615
KMT2A
1.000 11 118503389 frameshift variant A/- del 3
rs1555535739
CTCF
1.000 16 67626653 stop gained C/T snv 3
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv 3
rs886041166
CHD7
1.000 8 60742366 stop gained C/T snv 3
rs917027829
CSF1R
1.000 5 150069942 stop gained G/A;T snv 4.0E-06 3
rs1553182964
NFIA
1 61404170 frameshift variant ACTT/- delins 2
rs1553631783
CTNNB1
3 41233416 frameshift variant G/- delins 2