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: rs1060503248
rs1060503248 		0.925 0.160 12 51916108 missense variant G/A;C snv 4.0E-06 1.4E-05
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 2003 2013
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