Disease: Congenital pectus carinatum
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv 8