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: rs773334730
rs773334730 		1.000 0.120 9 127843248 splice region variant 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 1.000 1 2016 2016
dbSNP: rs1554810215
rs1554810215 		1.000 0.120 9 127825239 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 1 2014 2014
dbSNP: rs1060501408
rs1060501408 		1.000 0.120 9 127854482 5 prime UTR variant 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 2 2011 2011
dbSNP: rs863223542
rs863223542 		1.000 0.120 9 127818715 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 2 2011 2012
dbSNP: rs1554810932
rs1554810932 		1.000 0.120 9 127829823 frameshift variant G/- 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 1 2011 2011
dbSNP: rs1564452685
rs1564452685 		1.000 0.120 9 127818297 frameshift variant G/- 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 1 2011 2011
dbSNP: rs1064794219
rs1064794219 		1.000 0.120 9 127825322 frameshift variant CTCAG/- 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 2010 2011
dbSNP: rs1564452075
rs1564452075 		1.000 0.120 9 127817203 splice acceptor 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 1.000 2 2010 2013
dbSNP: rs730880096
rs730880096 		1.000 0.120 9 127829788 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 1 2008 2008
dbSNP: rs1060501417
rs1060501417 		1.000 0.120 9 127829682 splice region 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 1 2007 2007
dbSNP: rs1564455715
rs1564455715 		1.000 0.120 9 127824975 splice acceptor 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 5 2006 2014
dbSNP: rs1554812253
rs1554812253 		1.000 0.120 9 127843093 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 2006 2012
dbSNP: rs1564452759
rs1564452759 		1.000 0.120 9 127818379 splice acceptor variant T/C 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 2006 2012
dbSNP: rs1564455554
rs1564455554 		1.000 0.120 9 127824798 splice donor 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 3 2006 2012
dbSNP: rs373842615
rs373842615 		0.925 0.120 9 127819662 splice acceptor variant T/C snv 4.2E-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 3 2006 2012
dbSNP: rs863223538
rs863223538 		0.925 0.120 9 127818220 missense variant C/T 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 1.000 2 2006 2007
dbSNP: rs1554809355
rs1554809355 		1.000 0.120 9 127818793 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 1 2006 2006
dbSNP: rs1554810257
rs1554810257 		1.000 0.120 9 127825331 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 1.000 1 2006 2006
dbSNP: rs1554810510
rs1554810510 		1.000 0.120 9 127826641 frameshift variant G/- 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 1 2006 2006
dbSNP: rs1060501410
rs1060501410 		0.925 0.120 9 127824800 missense 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 6 2005 2016
dbSNP: rs1329127701
rs1329127701 		0.925 0.120 9 127824304 splice region 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 4 2005 2014
dbSNP: rs1554810405
rs1554810405 		1.000 0.120 9 127825787 frameshift variant -/CG 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 1 2005 2005
dbSNP: rs1252348200
rs1252348200 		1.000 0.120 9 127843168 missense variant C/A;T 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 1.000 5 2004 2012
dbSNP: rs1085307433
rs1085307433 		0.925 0.160 9 127818734 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 1.000 2 2004 2004
dbSNP: rs1564466414
rs1564466414 		1.000 0.120 9 127854333 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 2 2004 2009