Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397507520
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs61729366
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs771063992
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs786204858
rs786204858
PTEN
0.776 0.280 10 87933079 missense variant A/G;T snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs886039799
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 1.000 3 1996 2014
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 1.000 1 2017 2017