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: 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: 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: 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: rs1060503236
rs1060503236 		1.000 0.120 12 51912514 frameshift variant -/T delins
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 0.700 0
dbSNP: rs1555152345
rs1555152345 		1.000 0.120 12 51912532 stop gained 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 0.700 0
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: rs1555152447
rs1555152447 		1.000 0.120 12 51913142 frameshift variant G/- del
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 0.700 0
dbSNP: rs1184716348
rs1184716348 		1.000 0.120 12 51913159 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 0.700 0
dbSNP: rs863223415
rs863223415 		1.000 0.120 12 51913177 frameshift variant G/-;GG delins
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 0.700 1.000 2 1998 2002
dbSNP: rs774389618
rs774389618 		1.000 0.120 12 51913177 missense variant G/A;C;T snv 1.8E-05; 4.5E-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 0.700 0
dbSNP: rs267606632
rs267606632 		1.000 0.120 12 51913180 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 0.700 1.000 3 2007 2014
dbSNP: rs387906392
rs387906392 		1.000 0.120 12 51913180 missense variant GGGCC/AGCCT mnv
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 0.700 0
dbSNP: rs121909285
rs121909285 		1.000 0.120 12 51913187 missense variant G/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 17 1996 2015
dbSNP: rs863223409
rs863223409 		1.000 0.120 12 51913189 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 0.700 0
dbSNP: rs1131691346
rs1131691346 		1.000 0.120 12 51913191 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 0.700 0
dbSNP: rs1060503246
rs1060503246 		1.000 0.120 12 51913219 frameshift variant G/- delins
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 0.700 0
dbSNP: rs1060503241
rs1060503241 		1.000 0.120 12 51913223 frameshift variant C/- delins
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 0.700 0
dbSNP: rs1480110873
rs1480110873 		1.000 0.120 12 51913233 missense variant C/T snv 2.8E-05
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 0.700 1.000 13 1996 2015
dbSNP: rs1085307405
rs1085307405 		0.925 0.160 12 51913236 missense variant C/T snv 7.0E-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 1.000 1 2013 2013
dbSNP: rs1085307405
rs1085307405 		0.925 0.160 12 51913236 missense variant C/T snv 7.0E-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 0.700 0
dbSNP: rs863223414
rs863223414 		0.925 0.120 12 51913237 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 13 1997 2014