rs1042078
|
1.000 |
0.040 |
15 |
48410676 |
3 prime UTR variant |
G/A
|
snv
|
|
0.64
|
Aortic Aneurysm, Thoracic
|
Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs397515866
|
1.000 |
0.160 |
15 |
48411000 |
frameshift variant |
AA/-
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397515865
|
1.000 |
0.160 |
15 |
48411006 |
missense variant |
T/G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060501033
|
0.925 |
0.160 |
15 |
48411045 |
frameshift variant |
A/-
|
del
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs1060501033
|
0.925 |
0.160 |
15 |
48411045 |
frameshift variant |
A/-
|
del
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs794728323
|
1.000 |
0.160 |
15 |
48411062 |
frameshift variant |
TT/-;T;TTT
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555393508
|
1.000 |
0.160 |
15 |
48411070 |
stop gained |
C/A;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555393510
|
1.000 |
0.160 |
15 |
48411076 |
stop gained |
G/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1064794130
|
1.000 |
0.160 |
15 |
48411077 |
frameshift variant |
AAGTT/-
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587782948
|
1.000 |
0.160 |
15 |
48411085 |
stop gained |
C/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1555393516
|
0.925 |
0.040 |
15 |
48411101 |
frameshift variant |
-/G
|
delins
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
|
0 |
|
|
rs1555393516
|
0.925 |
0.040 |
15 |
48411101 |
frameshift variant |
-/G
|
delins
|
|
|
Aneurysm
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs886038795
|
0.925 |
0.160 |
15 |
48411118 |
stop gained |
G/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs886038795
|
0.925 |
0.160 |
15 |
48411118 |
stop gained |
G/A
|
snv
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs397515864
|
1.000 |
0.160 |
15 |
48411123 |
stop gained |
G/C
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555393525
|
1.000 |
0.160 |
15 |
48411127 |
frameshift variant |
A/-
|
del
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs727504454
|
1.000 |
0.160 |
15 |
48411131 |
inframe deletion |
TCC/-
|
del
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555393532
|
0.925 |
0.160 |
15 |
48411159 |
missense variant |
T/C;G
|
snv
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
|
0 |
|
|
rs1555393532
|
0.925 |
0.160 |
15 |
48411159 |
missense variant |
T/C;G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555393538
|
1.000 |
0.160 |
15 |
48411189 |
frameshift variant |
-/T
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs193922246
|
1.000 |
0.160 |
15 |
48411189 |
inframe deletion |
TTTTAA/-
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs869025417
|
1.000 |
0.160 |
15 |
48411267 |
missense variant |
A/G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs1555393551
|
0.925 |
0.160 |
15 |
48411271 |
stop gained |
C/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs1555393551
|
0.925 |
0.160 |
15 |
48411271 |
stop gained |
C/A
|
snv
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs1566888689
|
0.925 |
0.160 |
15 |
48411277 |
frameshift variant |
T/-
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |