rs104893807
|
0.925 |
0.120 |
3 |
30674196 |
missense variant |
C/G;T
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
2004 |
2017 |
rs104893809
|
0.882 |
0.120 |
3 |
30691504 |
missense variant |
C/T
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
2004 |
2017 |
rs104893810
|
0.790 |
0.360 |
3 |
30691477 |
missense variant |
C/T
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
2004 |
2017 |
rs104893811
|
0.851 |
0.160 |
3 |
30674228 |
missense variant |
C/T
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
2004 |
2017 |
rs104893812
|
1.000 |
0.120 |
3 |
30672189 |
missense variant |
T/A;G
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
2004 |
2017 |
rs104893813
|
1.000 |
0.120 |
3 |
30672246 |
missense variant |
G/A;C;T
|
snv
|
8.2E-06;
8.2E-06
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
2004 |
2017 |
rs104893814
|
1.000 |
0.120 |
3 |
30672252 |
missense variant |
G/T
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
2004 |
2017 |
rs104893815
|
0.851 |
0.240 |
3 |
30691478 |
missense variant |
G/A
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
2004 |
2017 |
rs104893816
|
0.882 |
0.120 |
3 |
30674229 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
2004 |
2017 |
rs28934568
|
1.000 |
0.120 |
3 |
30672106 |
missense variant |
T/C
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
2004 |
2017 |
rs34833812
|
1.000 |
0.160 |
3 |
30672127 |
missense variant |
C/T
|
snv
|
1.1E-03
|
3.4E-04
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
1 |
1998 |
1998 |
rs104893810
|
0.790 |
0.360 |
3 |
30691477 |
missense variant |
C/T
|
snv
|
|
|
Loeys-Dietz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
6 |
2005 |
2013 |
rs12493607
|
0.882 |
0.080 |
3 |
30641447 |
intron variant |
G/C;T
|
snv
|
|
|
Breast Carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
4 |
2013 |
2017 |
rs12493607
|
0.882 |
0.080 |
3 |
30641447 |
intron variant |
G/C;T
|
snv
|
|
|
Malignant neoplasm of breast
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
2 |
2013 |
2014 |
rs121918714
|
1.000 |
0.080 |
3 |
30691471 |
missense variant |
G/C
|
snv
|
|
|
Esophageal carcinoma
|
Digestive System Diseases; Neoplasms
|
0.710 |
1.000 |
1 |
2000 |
2000 |
rs1553630274
|
1.000 |
0.120 |
3 |
30672313 |
missense variant |
A/G
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
10 |
2004 |
2012 |
rs761231369
|
1.000 |
0.120 |
3 |
30671923 |
missense variant |
A/T
|
snv
|
8.0E-06
|
1.4E-05
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
10 |
2004 |
2012 |
rs104893811
|
0.851 |
0.160 |
3 |
30674228 |
missense variant |
C/T
|
snv
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
9 |
2005 |
2016 |
rs104893815
|
0.851 |
0.240 |
3 |
30691478 |
missense variant |
G/A
|
snv
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
7 |
2005 |
2014 |
rs886039551
|
0.882 |
0.120 |
3 |
30674186 |
missense variant |
G/A
|
snv
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
7 |
2006 |
2014 |
rs104893819
|
0.827 |
0.240 |
3 |
30688470 |
stop gained |
C/G;T
|
snv
|
|
|
Loeys-Dietz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2006 |
2016 |
rs1553630221
|
1.000 |
|
3 |
30672234 |
missense variant |
G/C
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
6 |
2005 |
2016 |
rs1553630221
|
1.000 |
|
3 |
30672234 |
missense variant |
G/C
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2005 |
2016 |
rs104893819
|
0.827 |
0.240 |
3 |
30688470 |
stop gained |
C/G;T
|
snv
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
5 |
2004 |
2012 |
rs863223852
|
0.882 |
0.120 |
3 |
30688476 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
5 |
2004 |
2017 |