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: rs1564452667
rs1564452667 		1.000 0.120 9 127818290 frameshift variant -/T 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 0
dbSNP: rs1564453619
rs1564453619 		1.000 0.120 9 127820003 stop gained C/T snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1564455604
rs1564455604 		1.000 0.120 9 127824873 frameshift variant AGCATCCG/- 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 0
dbSNP: rs1564456374
rs1564456374 		1.000 0.120 9 127825812 frameshift variant C/- 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 0
dbSNP: rs267606783
rs267606783 		0.925 0.120 9 127854354 start lost A/C;G snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs369596004
rs369596004 		1.000 0.120 9 127843194 frameshift variant C/- 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 0
dbSNP: rs755348996
rs755348996 		1.000 0.120 9 127843094 splice region variant C/A;T snv 8.0E-06; 1.6E-05
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs774429348
rs774429348 		1.000 0.120 9 127824414 stop gained G/A;C snv 4.0E-06
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs863223532
rs863223532 		1.000 0.120 9 127829800 stop gained G/A snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs863223537
rs863223537 		1.000 0.120 9 127825822 stop gained G/A snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs863223539
rs863223539 		1.000 0.120 9 127817175 stop gained A/T snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs863223540
rs863223540 		1.000 0.120 9 127824355 frameshift variant TCTG/- 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 0
dbSNP: rs863223543
rs863223543 		1.000 0.120 9 127818714 splice donor variant A/G;T snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs864622666
rs864622666 		1.000 0.120 9 127825741 frameshift variant GGCC/- 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 0
dbSNP: rs878853658
rs878853658 		1.000 0.120 9 127854289 frameshift variant T/- 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 0
dbSNP: rs878853659
rs878853659 		0.925 0.120 9 127843246 splice acceptor variant C/T snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886042916
rs886042916 		1.000 0.120 9 127824910 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 0
dbSNP: rs1060501414
rs1060501414 		1.000 0.120 9 127825862 splice acceptor variant T/C snv 7.0E-06
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 6 1994 2012
dbSNP: rs1554810490
rs1554810490 		1.000 0.120 9 127826522 stop gained G/A snv
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 5 1997 2005
dbSNP: rs886039505
rs886039505 		0.925 0.120 9 127829686 splice donor variant C/T snv
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 3 1997 2009
dbSNP: rs878853657
rs878853657 		0.925 0.120 9 127826586 missense variant C/G snv
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 8 1998 2014
dbSNP: rs1554809448
rs1554809448 		1.000 0.120 9 127819622 splice region variant C/A;G snv
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 3 1998 2011
dbSNP: rs1564453538
rs1564453538 		1.000 0.120 9 127819904 frameshift variant T/- 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 3 1998 2007
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
dbSNP: rs1554810378
rs1554810378 		0.925 0.120 9 127825722 missense variant A/G snv
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 8 1999 2012