ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Pulmonary Hypertension, Primary, 1 ×
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: 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