ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION ×
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: rs28936401
rs28936401 		0.925 0.160 12 51916107 missense variant C/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 3 2003 2015
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