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 |
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 |
rs780542125
|
1.000 |
0.120 |
3 |
30671752 |
missense variant |
G/A
|
snv
|
5.2E-05
|
2.8E-05
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2013 |
2017 |
rs1553630457
|
0.882 |
0.240 |
3 |
30674231 |
missense variant |
T/C
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs104893817
|
1.000 |
0.120 |
3 |
30674123 |
missense variant |
A/C;G
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs104893818
|
1.000 |
0.120 |
3 |
30674130 |
missense variant |
C/T
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs104893819
|
0.827 |
0.240 |
3 |
30688470 |
stop gained |
C/G;T
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121918715
|
1.000 |
0.120 |
3 |
30688511 |
splice region variant |
G/A
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs193922664
|
0.925 |
0.120 |
3 |
30691435 |
missense variant |
T/C
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587776770
|
1.000 |
0.120 |
3 |
30688382 |
splice acceptor variant |
A/G
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs727504292
|
0.882 |
0.120 |
3 |
30672250 |
missense variant |
G/A;C
|
snv
|
1.6E-05
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs727504421
|
0.882 |
0.160 |
3 |
30691465 |
missense variant |
G/A;T
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs863223852
|
0.882 |
0.120 |
3 |
30688476 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs863223853
|
1.000 |
0.120 |
3 |
30691421 |
missense variant |
G/T
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs863224935
|
1.000 |
0.120 |
3 |
30688395 |
missense variant |
T/G
|
snv
|
|
|
Aortic aneurysm, familial thoracic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|