Disease: Congenital diaphragmatic hernia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1057518944
NIPBL
0.807 0.280 5 36984990 frameshift variant CT/- delins 9
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 8
rs143044921
FREM2
0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 8
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 6