rs863223408
|
0.882 |
0.160 |
12 |
51920832 |
missense variant |
G/A
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2005 |
2015 |
rs28936401
|
0.925 |
0.160 |
12 |
51916107 |
missense variant |
C/A;T
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2003 |
2015 |
rs1057517944
|
0.882 |
0.160 |
12 |
51920816 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2004 |
2013 |
rs1060503248
|
0.925 |
0.160 |
12 |
51916108 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
1.4E-05
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2003 |
2013 |
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 |
rs1085307423
|
1.000 |
0.080 |
12 |
51920768 |
frameshift variant |
G/-
|
delins
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2010 |
2012 |
rs1085307429
|
1.000 |
0.080 |
12 |
51920849 |
stop gained |
C/T
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2001 |
2010 |
rs121909288
|
0.851 |
0.160 |
12 |
51920831 |
missense variant |
C/G;T
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2001 |
2010 |
rs1085307405
|
0.925 |
0.160 |
12 |
51913236 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
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 |
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 |
rs1085307415
|
0.925 |
0.160 |
12 |
51916042 |
missense variant |
C/A
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
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 |
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 |
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 |
rs1085307422
|
1.000 |
0.080 |
12 |
51920766 |
stop gained |
C/G
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
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 |
rs1085307427
|
1.000 |
0.080 |
12 |
51920831 |
frameshift variant |
C/TG
|
delins
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
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 |
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 |
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 |
rs121909284
|
0.882 |
0.160 |
12 |
51916219 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121909287
|
0.882 |
0.160 |
12 |
51916218 |
missense variant |
C/T
|
snv
|
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|