FREM2, FRAS1 related extracellular matrix 2, 341640

N. diseases: 103; N. variants: 16
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: rs143044921
rs143044921 		0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1555261576
rs1555261576 		1.000 0.080 13 38692338 missense variant C/T snv
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs775394591
rs775394591 		0.851 0.120 13 38784727 inframe deletion TCT/- delins 2.8E-05
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0