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: 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: 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: rs1555153354
rs1555153354 		1.000 0.120 12 51916191 missense variant G/A snv
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 2 2006 2007
dbSNP: rs1555152440
rs1555152440 		1.000 0.120 12 51913136 frameshift variant -/T delins
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 0
dbSNP: rs863223414
rs863223414 		0.925 0.120 12 51913237 missense variant G/A;C snv
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 0
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: rs1085307410
rs1085307410 		0.925 0.160 12 51915305 missense variant C/T snv
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
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: rs1085307414
rs1085307414 		0.925 0.160 12 51915407 missense variant G/A;C;T snv 4.0E-06
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
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: rs1085307419
rs1085307419 		0.925 0.160 12 51919008 missense variant C/A;T 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: 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: rs758683062
rs758683062 		0.925 0.160 12 51913675 stop gained C/T snv 4.1E-06
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2009 2009
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: 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: 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: 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: 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
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: 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