Disease: Multiple congenital anomalies
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs1553234339
COL11A1
1.000 1 103012412 splice donor variant C/T snv 2
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs151344530
TFAP2A ; TFAP2A-AS2
0.925 0.040 6 10404511 missense variant C/G;T snv 3
rs151344525
TFAP2A-AS2 ; TFAP2A
0.925 0.040 6 10404562 missense variant C/G;T snv 3
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 6
rs1556299881
PRPS1
1.000 X 107640900 splice acceptor variant A/G snv 2
rs1304422857
UBE3B
1.000 12 109511304 splice donor variant G/A;T snv 3
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 12
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 4
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 14
rs1554829390
COL27A1 ; LOC105376224
1.000 9 114307746 stop gained C/T snv 2
rs1554596397
TRPS1
1.000 8 115604881 stop gained A/C snv 2
rs1555240361
MED13L
1.000 12 115966138 stop gained G/A snv 2
rs1555240376
MED13L
1.000 12 115966189 missense variant G/T snv 2
rs1555248020
MED13L
1.000 12 116009052 stop gained G/C snv 3
rs781978013
KMT2A
1.000 11 118472681 stop gained G/A;T snv 4.0E-06 3
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs1555039606
KMT2A
1.000 11 118482436 frameshift variant A/- delins 2
rs1555046615
KMT2A
1.000 11 118503389 frameshift variant A/- del 3
rs869312965
GLI2
1.000 2 120955349 frameshift variant G/- del 2
rs1553479405
GLI2
1.000 2 120989603 frameshift variant C/- del 3
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4