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: 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
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1057518909
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1060505041
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1064795388
rs1064795388
PUF60 ; NRBP2 ; LOC107986985
0.882 0.080 8 143829279 splice donor variant C/G;T snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1064795559
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1085307137
rs1085307137
PUF60
0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1232880706
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs137852981
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs140119177
rs140119177
FAM120AOS
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs143044921
rs143044921
FREM2
0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1569146993
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs180177135
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs201217593
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0