ENG, endoglin, 2022

N. diseases: 371; N. variants: 114
Disease: Hereditary hemorrhagic telangiectasia ×
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: rs1564452747
rs1564452747 		1.000 0.120 9 127818371 frameshift variant CT/- delins
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 1998 2005