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 |
rs1555153077
|
1.000 |
0.120 |
12 |
51915259 |
stop gained |
-/AGCACGCAGCTGT
|
delins
|
|
|
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 |
rs387906394
|
1.000 |
0.120 |
12 |
51916100 |
frameshift variant |
-/G
|
ins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555153830
|
1.000 |
0.120 |
12 |
51919060 |
frameshift variant |
-/GG
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060503236
|
1.000 |
0.120 |
12 |
51912514 |
frameshift variant |
-/T
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555152440
|
1.000 |
0.120 |
12 |
51913136 |
frameshift variant |
-/T
|
delins
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
rs1085307428
|
0.925 |
0.160 |
12 |
51920841 |
missense variant |
A/C
|
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 |
rs1085307428
|
0.925 |
0.160 |
12 |
51920841 |
missense variant |
A/C
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs1555153277
|
1.000 |
0.120 |
12 |
51916113 |
missense variant |
A/G
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
19 |
1996 |
2015 |
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 |
rs1085307408
|
1.000 |
0.080 |
12 |
51915240 |
missense variant |
A/G
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1085307416
|
0.925 |
0.160 |
12 |
51916111 |
missense variant |
A/G
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs706816
|
1.000 |
0.080 |
12 |
51919180 |
missense variant |
A/G
|
snv
|
0.26
|
0.31
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1085307416
|
0.925 |
0.160 |
12 |
51916111 |
missense variant |
A/G
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1131691346
|
1.000 |
0.120 |
12 |
51913191 |
missense variant |
A/G
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1565595121
|
1.000 |
0.120 |
12 |
51916207 |
missense variant |
A/G
|
snv
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1085307420
|
1.000 |
0.080 |
12 |
51919018 |
missense variant |
A/T
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
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 |
|
|
rs1565594524
|
1.000 |
0.120 |
12 |
51915486 |
frameshift variant |
ATCGC/-
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1085307404
|
1.000 |
0.080 |
12 |
51912511 |
frameshift variant |
C/-
|
del
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2001 |
2010 |
rs1085307424
|
1.000 |
0.080 |
12 |
51920770 |
frameshift variant |
C/-
|
delins
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
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 |
rs1060503241
|
1.000 |
0.120 |
12 |
51913223 |
frameshift variant |
C/-
|
delins
|
|
|
OSLER-RENDU-WEBER SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|