ECE1, endothelin converting enzyme 1, 1889

N. diseases: 157; N. variants: 13
Disease: Hirschsprung Disease ×
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: rs200894751
rs200894751 		1.000 0.080 1 21225411 missense variant G/A snv 2.5E-04 1.7E-04
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs765763704
rs765763704 		1.000 0.080 1 21247317 missense variant A/C snv 4.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0