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: 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: 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: 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: 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: 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: 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: 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