EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Disease: Anemia, Sickle Cell ×
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: rs553767245
rs553767245 		1.000 0.080 6 12292355 missense variant G/A snv 8.0E-06 3.5E-05
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2018 2018