EDN3, endothelin 3, 1908

N. diseases: 107; N. variants: 16
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: rs372958987
rs372958987 		1.000 0.080 20 59324430 missense variant C/A;G;T snv 2.0E-05; 3.6E-05
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs868107957
rs868107957 		1.000 0.080 20 59301574 missense variant G/A snv 4.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2001 2001