rs863223414
|
0.925 |
0.120 |
12 |
51913237 |
missense variant |
G/A;C
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1318118188
|
1.000 |
0.120 |
12 |
51913243 |
missense variant |
G/A;T
|
snv
|
|
|
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 |
rs1330837892
|
1.000 |
0.120 |
12 |
51913267 |
missense variant |
G/T
|
snv
|
4.5E-06
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555152548
|
1.000 |
0.120 |
12 |
51913351 |
splice donor variant |
G/T
|
snv
|
|
|
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 |
rs863223416
|
1.000 |
0.120 |
12 |
51913649 |
frameshift variant |
GGTG/-
|
delins
|
|
|
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 |
rs758683062
|
0.925 |
0.160 |
12 |
51913675 |
stop gained |
C/T
|
snv
|
4.1E-06
|
|
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 |
rs758683062
|
0.925 |
0.160 |
12 |
51913675 |
stop gained |
C/T
|
snv
|
4.1E-06
|
|
Pulmonary Hypertension, Primary, 1
|
Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1060503249
|
1.000 |
0.120 |
12 |
51913767 |
splice donor variant |
G/-
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1565593274
|
1.000 |
0.120 |
12 |
51913973 |
splice acceptor variant |
G/A
|
snv
|
|
|
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 |
rs753792569
|
1.000 |
0.120 |
12 |
51913984 |
missense variant |
A/C
|
snv
|
1.7E-04
|
8.4E-05
|
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 |
rs1555152774
|
1.000 |
0.120 |
12 |
51913988 |
frameshift variant |
-/A
|
ins
|
|
|
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 |
rs1555152771
|
1.000 |
0.120 |
12 |
51913988 |
frameshift variant |
ACTG/-
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555152786
|
1.000 |
0.120 |
12 |
51914018 |
frameshift variant |
C/-
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1555152790
|
1.000 |
0.120 |
12 |
51914026 |
missense variant |
T/C
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs886043123
|
1.000 |
0.080 |
12 |
51914041 |
missense variant |
T/A;C
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1318446539
|
1.000 |
0.120 |
12 |
51914049 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1085307407
|
1.000 |
0.080 |
12 |
51914050 |
missense variant |
A/G
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1060503240
|
1.000 |
0.120 |
12 |
51914066 |
frameshift variant |
TG/-
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555152815
|
1.000 |
0.120 |
12 |
51914072 |
splice donor variant |
G/-
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs28936687
|
0.925 |
0.160 |
12 |
51914445 |
missense variant |
G/A
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
1996 |
2015 |
rs28936687
|
0.925 |
0.160 |
12 |
51914445 |
missense variant |
G/A
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555152909
|
1.000 |
0.120 |
12 |
51914453 |
frameshift variant |
G/-
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs754283265
|
1.000 |
0.120 |
12 |
51914456 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
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 |
rs387906391
|
1.000 |
0.120 |
12 |
51914506 |
inframe deletion |
CTC/-
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
1996 |
2006 |
rs762773076
|
1.000 |
0.120 |
12 |
51914511 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
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 |