ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
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: rs1085307429
rs1085307429 		1.000 0.080 12 51920849 stop gained C/T snv
CUI: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 1.000 2 2001 2010
dbSNP: rs1085307428
rs1085307428 		0.925 0.160 12 51920841 missense variant A/C snv
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 13 1996 2015
dbSNP: rs1085307428
rs1085307428 		0.925 0.160 12 51920841 missense variant A/C snv
CUI: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 1.000 1 2003 2003
dbSNP: rs863223408
rs863223408 		0.882 0.160 12 51920832 missense variant G/A snv
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 9 2005 2013
dbSNP: rs863223408
rs863223408 		0.882 0.160 12 51920832 missense variant G/A snv
CUI: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 1.000 6 2005 2015
dbSNP: rs863223408
rs863223408 		0.882 0.160 12 51920832 missense variant G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs863223408
rs863223408 		0.882 0.160 12 51920832 missense variant G/A snv
CUI: C0014591
Disease: Epistaxis
Epistaxis 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121909288
rs121909288 		0.851 0.160 12 51920831 missense variant C/G;T snv
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 15 1996 2015
dbSNP: rs121909288
rs121909288 		0.851 0.160 12 51920831 missense variant C/G;T snv
CUI: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 1.000 2 2001 2010
dbSNP: rs1085307427
rs1085307427 		1.000 0.080 12 51920831 frameshift variant C/TG delins
CUI: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 1.000 1 2004 2004
dbSNP: rs121909288
rs121909288 		0.851 0.160 12 51920831 missense variant C/G;T snv
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2014 2014
dbSNP: rs121909288
rs121909288 		0.851 0.160 12 51920831 missense variant C/G;T snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs139142865
rs139142865 		1.000 0.120 12 51920826 missense variant C/T snv 1.6E-03 2.0E-03
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 13 1996 2015
dbSNP: rs139142865
rs139142865 		1.000 0.120 12 51920826 missense variant C/T snv 1.6E-03 2.0E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs1085307426
rs1085307426 		0.925 0.160 12 51920817 missense variant G/A;C snv
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 17 1996 2015
dbSNP: rs1085307426
rs1085307426 		0.925 0.160 12 51920817 missense variant G/A;C snv
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 2 2008 2009
dbSNP: rs1057517944
rs1057517944 		0.882 0.160 12 51920816 stop gained C/T snv 4.0E-06
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 12 2004 2014
dbSNP: rs1057517944
rs1057517944 		0.882 0.160 12 51920816 stop gained C/T snv 4.0E-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 10 2004 2014
dbSNP: rs1057517944
rs1057517944 		0.882 0.160 12 51920816 stop gained C/T snv 4.0E-06
CUI: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 1.000 2 2004 2013
dbSNP: rs1085307425
rs1085307425 		1.000 0.040 12 51920814 missense variant C/A snv
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1301762186
rs1301762186 		1.000 0.120 12 51920794 stop gained C/A;T snv
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1085307424
rs1085307424 		1.000 0.080 12 51920770 frameshift variant C/- delins
CUI: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1085307423
rs1085307423 		1.000 0.080 12 51920768 frameshift variant G/- delins
CUI: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 1.000 2 2010 2012
dbSNP: rs1085307422
rs1085307422 		1.000 0.080 12 51920766 stop gained C/G snv
CUI: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1060503237
rs1060503237 		1.000 0.120 12 51920758 splice acceptor variant G/A snv
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0