ENG, endoglin, 2022

N. diseases: 371; N. variants: 114
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1 ×
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: rs878853657
rs878853657 		0.925 0.120 9 127826586 missense variant C/G snv
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 12 1994 2010
dbSNP: rs1554809450
rs1554809450 		1.000 0.120 9 127819627 stop gained G/A snv
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs373842615
rs373842615 		0.925 0.120 9 127819662 splice acceptor variant T/C snv 4.2E-06
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2006 2006