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: 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: 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: rs121909284
rs121909284 		0.882 0.160 12 51916219 missense variant G/A;C snv 8.0E-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 0.800 1.000 19 1996 2015
dbSNP: rs121909287
rs121909287 		0.882 0.160 12 51916218 missense variant C/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 18 1996 2015
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: 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: 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: rs121909284
rs121909284 		0.882 0.160 12 51916219 missense variant G/A;C snv 8.0E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121909287
rs121909287 		0.882 0.160 12 51916218 missense variant C/T snv
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121909284
rs121909284 		0.882 0.160 12 51916219 missense variant G/A;C snv 8.0E-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 0
dbSNP: rs121909287
rs121909287 		0.882 0.160 12 51916218 missense variant 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 0
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: rs28936688
rs28936688 		0.925 0.160 12 51915483 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 0.800 1.000 21 1996 2015
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: rs28936401
rs28936401 		0.925 0.160 12 51916107 missense variant 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 0.800 1.000 14 1997 2016
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: rs121909289
rs121909289 		0.925 0.160 12 51916183 missense variant G/C;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 1.000 13 1996 2015
dbSNP: rs28936687
rs28936687 		0.925 0.160 12 51914445 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 0.800 1.000 13 1996 2015
dbSNP: rs863223414
rs863223414 		0.925 0.120 12 51913237 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 13 1997 2014
dbSNP: rs1060503248
rs1060503248 		0.925 0.160 12 51916108 missense variant G/A;C snv 4.0E-06 1.4E-05
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 9 2000 2016