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 |
|
|
rs1555153796
|
1.000 |
0.120 |
12 |
51918986 |
frameshift variant |
TCGTGGAGGACTATAGACCA/-
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs28936399
|
1.000 |
0.120 |
12 |
51916114 |
missense variant |
T/G
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
15 |
1996 |
2015 |
rs1555153854
|
1.000 |
0.120 |
12 |
51919117 |
splice donor variant |
T/G
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2004 |
2014 |
rs1085307409
|
1.000 |
0.080 |
12 |
51915270 |
missense variant |
T/C
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1085307411
|
1.000 |
0.040 |
12 |
51915306 |
missense variant |
T/C
|
snv
|
|
|
Pulmonary Hypertension, Primary, 1
|
Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1085307413
|
1.000 |
0.040 |
12 |
51915402 |
missense variant |
T/C
|
snv
|
|
|
Pulmonary Hypertension, Primary, 1
|
Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1085307417
|
1.000 |
0.040 |
12 |
51916129 |
missense variant |
T/C
|
snv
|
|
|
Pulmonary Hypertension, Primary, 1
|
Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1085307418
|
1.000 |
0.080 |
12 |
51916182 |
missense variant |
T/C
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
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 |
|
|
rs1555153382
|
1.000 |
0.120 |
12 |
51916235 |
splice donor 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 |
rs121909286
|
1.000 |
0.120 |
12 |
51916180 |
missense variant |
T/A
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
15 |
1996 |
2015 |
rs1555152935
|
1.000 |
0.120 |
12 |
51914524 |
frameshift variant |
GTC/AG
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
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 |
rs387906392
|
1.000 |
0.120 |
12 |
51913180 |
missense variant |
GGGCC/AGCCT
|
mnv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs387906393
|
0.925 |
0.160 |
12 |
51914571 |
inframe deletion |
GAC/-
|
delins
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs387906393
|
0.925 |
0.160 |
12 |
51914571 |
inframe deletion |
GAC/-
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121909285
|
1.000 |
0.120 |
12 |
51913187 |
missense variant |
G/T
|
snv
|
|
|
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 |
rs1565595129
|
1.000 |
0.120 |
12 |
51916208 |
missense 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 |
3 |
2000 |
2003 |
rs863223413
|
1.000 |
0.120 |
12 |
51915450 |
missense variant |
G/T
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
2 |
2000 |
2011 |
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 |
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 |
|
|
rs121909289
|
0.925 |
0.160 |
12 |
51916183 |
missense variant |
G/C;T
|
snv
|
|
|
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 |
rs121909289
|
0.925 |
0.160 |
12 |
51916183 |
missense variant |
G/C;T
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |