rs1926203
|
0.882 |
0.160 |
10 |
88967577 |
intron variant |
C/A
|
snv
|
|
0.59
|
Carcinoma of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1926203
|
0.882 |
0.160 |
10 |
88967577 |
intron variant |
C/A
|
snv
|
|
0.59
|
Malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1926203
|
0.882 |
0.160 |
10 |
88967577 |
intron variant |
C/A
|
snv
|
|
0.59
|
Nasopharyngeal carcinoma
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs121434526
|
0.882 |
0.120 |
10 |
88941794 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
12 |
2007 |
2017 |
rs112602953
|
0.925 |
0.120 |
10 |
88943813 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
10 |
2007 |
2017 |
rs121434528
|
0.925 |
0.120 |
10 |
88939543 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
10 |
2007 |
2017 |
rs387906592
|
0.752 |
0.280 |
10 |
88941309 |
missense variant |
C/T
|
snv
|
|
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
9 |
2010 |
2015 |
rs1057521105
|
1.000 |
0.120 |
10 |
88941291 |
missense variant |
C/T
|
snv
|
|
7.1E-06
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
8 |
2007 |
2017 |
rs112901682
|
0.925 |
0.120 |
10 |
88948816 |
missense variant |
G/A;C
|
snv
|
|
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
8 |
2009 |
2016 |
rs121434527
|
0.925 |
0.120 |
10 |
88939542 |
missense variant |
C/T
|
snv
|
|
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
8 |
2007 |
2017 |
rs1554841298
|
1.000 |
0.120 |
10 |
88941384 |
missense variant |
A/G
|
snv
|
|
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
8 |
2007 |
2017 |
rs397516685
|
0.882 |
0.120 |
10 |
88939680 |
missense variant |
C/T
|
snv
|
|
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
8 |
2007 |
2017 |
rs777832794
|
1.000 |
0.120 |
10 |
88938074 |
missense variant |
G/T
|
snv
|
6.0E-05
|
2.8E-05
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
8 |
2007 |
2017 |
rs387906592
|
0.752 |
0.280 |
10 |
88941309 |
missense variant |
C/T
|
snv
|
|
|
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
|
|
0.800 |
1.000 |
6 |
2010 |
2013 |
rs387906592
|
0.752 |
0.280 |
10 |
88941309 |
missense variant |
C/T
|
snv
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
5 |
2009 |
2013 |
rs886039303
|
0.882 |
0.160 |
10 |
88941310 |
missense variant |
G/A
|
snv
|
|
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2014 |
2017 |
rs112602953
|
0.925 |
0.120 |
10 |
88943813 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
3 |
2007 |
2012 |
rs112901682
|
0.925 |
0.120 |
10 |
88948816 |
missense variant |
G/A;C
|
snv
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
2 |
2011 |
2011 |
rs387906592
|
0.752 |
0.280 |
10 |
88941309 |
missense variant |
C/T
|
snv
|
|
|
Arteriopathic disease
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
0.020 |
1.000 |
2 |
2013 |
2014 |
rs397516685
|
0.882 |
0.120 |
10 |
88939680 |
missense variant |
C/T
|
snv
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
2 |
2009 |
2009 |
rs1254836237
|
1.000 |
0.120 |
10 |
88947270 |
missense variant |
G/A;C
|
snv
|
|
2.1E-05
|
Aortic Aneurysm, Familial Thoracic 6
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs387906592
|
0.752 |
0.280 |
10 |
88941309 |
missense variant |
C/T
|
snv
|
|
|
Skin Manifestations
|
Pathological Conditions, Signs and Symptoms
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs387906592
|
0.752 |
0.280 |
10 |
88941309 |
missense variant |
C/T
|
snv
|
|
|
Cerebrovascular Disorders
|
Nervous System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs387906592
|
0.752 |
0.280 |
10 |
88941309 |
missense variant |
C/T
|
snv
|
|
|
Patent ductus arteriosus - persisting type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs387906592
|
0.752 |
0.280 |
10 |
88941309 |
missense variant |
C/T
|
snv
|
|
|
Prune Belly Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.010 |
1.000 |
1 |
2012 |
2012 |