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: rs1700159
rs1700159 		1.000 0.040 12 51912002 intron variant C/A;G;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs1085307411
rs1085307411 		1.000 0.040 12 51915306 missense variant T/C snv
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1085307412
rs1085307412 		1.000 0.040 12 51915388 missense variant C/G snv
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1085307413
rs1085307413 		1.000 0.040 12 51915402 missense variant T/C snv
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1085307417
rs1085307417 		1.000 0.040 12 51916129 missense variant T/C snv
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2008 2008
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: rs1700159
rs1700159 		1.000 0.040 12 51912002 intron variant C/A;G;T snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1700159
rs1700159 		1.000 0.040 12 51912002 intron variant C/A;G;T snv
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs1700159
rs1700159 		1.000 0.040 12 51912002 intron variant C/A;G;T snv
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs2277382
rs2277382 		1.000 0.040 12 51912437 missense variant C/T snv 8.4E-02 7.7E-02
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1085307404
rs1085307404 		1.000 0.080 12 51912511 frameshift variant C/- del
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: 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: 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: rs1085307407
rs1085307407 		1.000 0.080 12 51914050 missense variant A/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 2010 2010
dbSNP: rs1085307408
rs1085307408 		1.000 0.080 12 51915240 missense variant A/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 2015 2015
dbSNP: rs1085307409
rs1085307409 		1.000 0.080 12 51915270 missense variant T/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 2009 2009
dbSNP: rs1085307418
rs1085307418 		1.000 0.080 12 51916182 missense variant T/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 2013 2013
dbSNP: rs1085307420
rs1085307420 		1.000 0.080 12 51919018 missense variant A/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 1 2010 2010
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: 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: 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: rs11169953
rs11169953 		1.000 0.080 12 51910615 intron variant C/T snv 0.36
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs706816
rs706816 		1.000 0.080 12 51919180 missense variant A/G snv 0.26 0.31
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs886043123
rs886043123 		1.000 0.080 12 51914041 missense variant T/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 2013 2013
dbSNP: rs1555153277
rs1555153277 		1.000 0.120 12 51916113 missense variant A/G 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 19 1996 2015