Disease: Congenital pectus excavatum
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 26
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 18
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 10
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins 9
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv 8
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 7
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 6