ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: OSLER-RENDU-WEBER SYNDROME 2 ×
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: 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: 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: 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
dbSNP: rs1318118188
rs1318118188 		1.000 0.120 12 51913243 missense variant G/A;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 1.000 7 2006 2015
dbSNP: rs1330837892
rs1330837892 		1.000 0.120 12 51913267 missense variant G/T snv 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: rs1555152548
rs1555152548 		1.000 0.120 12 51913351 splice donor 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 0.700 1.000 1 2006 2006
dbSNP: rs863223416
rs863223416 		1.000 0.120 12 51913649 frameshift variant GGTG/- 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 2006
dbSNP: rs758683062
rs758683062 		0.925 0.160 12 51913675 stop gained C/T snv 4.1E-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 1.000 8 2003 2014
dbSNP: rs1060503249
rs1060503249 		1.000 0.120 12 51913767 splice donor 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: rs1565593274
rs1565593274 		1.000 0.120 12 51913973 splice acceptor 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 1 2006 2006
dbSNP: rs753792569
rs753792569 		1.000 0.120 12 51913984 missense variant A/C snv 1.7E-04 8.4E-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 15 1996 2015
dbSNP: rs1555152774
rs1555152774 		1.000 0.120 12 51913988 frameshift variant -/A ins
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 2006 2011