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 |
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 |
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 |
rs863223414
|
0.925 |
0.120 |
12 |
51913237 |
missense variant |
G/A;C
|
snv
|
|
|
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 |
rs1057517944
|
0.882 |
0.160 |
12 |
51920816 |
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 |
12 |
2004 |
2014 |
rs1060503248
|
0.925 |
0.160 |
12 |
51916108 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
1.4E-05
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
9 |
2000 |
2016 |
rs1565596508
|
1.000 |
0.120 |
12 |
51919061 |
frameshift variant |
-/TG
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
9 |
2004 |
2014 |
rs863223408
|
0.882 |
0.160 |
12 |
51920832 |
missense 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 |
9 |
2005 |
2013 |
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 |
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 |
rs1555153133
|
1.000 |
0.120 |
12 |
51915377 |
missense 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 |
5 |
2005 |
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 |
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 |
rs1085307419
|
0.925 |
0.160 |
12 |
51919008 |
missense variant |
C/A;T
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
1997 |
2011 |
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 |
rs1555153126
|
1.000 |
0.120 |
12 |
51915366 |
missense variant |
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 |
3 |
2005 |
2017 |
rs1565594311
|
1.000 |
0.120 |
12 |
51915392 |
missense variant |
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 |
3 |
2004 |
2006 |
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 |
rs267606632
|
1.000 |
0.120 |
12 |
51913180 |
missense 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 |
3 |
2007 |
2014 |
rs863223406
|
1.000 |
0.120 |
12 |
51919116 |
splice donor 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 |
3 |
2005 |
2011 |
rs1085307414
|
0.925 |
0.160 |
12 |
51915407 |
missense variant |
G/A;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 |
2 |
2015 |
2016 |
rs1131691686
|
1.000 |
0.120 |
12 |
51916122 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
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 |
rs1555153131
|
1.000 |
0.120 |
12 |
51915376 |
stop gained |
C/A
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
1997 |
2005 |
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 |
rs863223415
|
1.000 |
0.120 |
12 |
51913177 |
frameshift variant |
G/-;GG
|
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 |
2002 |