Disease: Congenital diaphragmatic hernia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908603
rs121908603 		0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.020 1.000 2 2007 2012
dbSNP: rs121908604
rs121908604 		0.925 0.080 8 105802609 missense variant A/G snv
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2007 2007
dbSNP: rs146423225
rs146423225 		0.925 0.120 8 105802747 stop gained C/G;T snv 1.1E-02
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012