Disease: Congenital pectus carinatum
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 18
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv 10
rs1555398397
FBN1
0.807 0.240 15 48485436 missense variant C/T snv 10
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv 10