rs137854480
|
0.742 |
0.200 |
15 |
48537629 |
missense variant |
G/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
37 |
1993 |
2019 |
rs140593
|
0.925 |
0.160 |
15 |
48489896 |
missense variant |
C/G;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
37 |
1993 |
2017 |
rs140603
|
0.925 |
0.160 |
15 |
48503845 |
stop gained |
G/A;C;T
|
snv
|
7.6E-04
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
37 |
1993 |
2017 |
rs137854461
|
0.790 |
0.280 |
15 |
48437026 |
missense variant |
T/C
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.820 |
1.000 |
36 |
1993 |
2017 |
rs140592
|
0.925 |
0.160 |
15 |
48489947 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
35 |
1993 |
2017 |
rs137854460
|
0.925 |
0.160 |
15 |
48432943 |
missense variant |
C/G;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
34 |
1993 |
2017 |
rs363853
|
1.000 |
0.160 |
15 |
48596292 |
missense variant |
A/G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
34 |
1993 |
2017 |
rs137854471
|
0.925 |
0.160 |
15 |
48483931 |
missense variant |
C/T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
33 |
1993 |
2017 |
rs137854478
|
0.851 |
0.160 |
15 |
48488233 |
missense variant |
C/T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
33 |
1993 |
2017 |
rs137854462
|
1.000 |
0.160 |
15 |
48510115 |
missense variant |
T/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
31 |
1993 |
2017 |
rs137854467
|
0.790 |
0.280 |
15 |
48600217 |
missense variant |
G/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
31 |
1993 |
2017 |
rs137854457
|
0.925 |
0.160 |
15 |
48428423 |
missense variant |
C/G;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
30 |
1993 |
2017 |
rs137854458
|
1.000 |
0.160 |
15 |
48483910 |
missense variant |
C/G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
30 |
1993 |
2017 |
rs137854459
|
1.000 |
0.160 |
15 |
48463977 |
missense variant |
A/G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
30 |
1993 |
2017 |
rs137854463
|
1.000 |
0.160 |
15 |
48497391 |
missense variant |
T/G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
30 |
1993 |
2017 |
rs137854469
|
1.000 |
0.160 |
15 |
48485418 |
missense variant |
C/A;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
30 |
1993 |
2017 |
rs137854470
|
1.000 |
0.160 |
15 |
48487425 |
missense variant |
C/T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
30 |
1993 |
2017 |
rs137854474
|
1.000 |
0.160 |
15 |
48483863 |
missense variant |
A/G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
30 |
1993 |
2017 |
rs137854475
|
0.882 |
0.200 |
15 |
48487155 |
missense variant |
C/T
|
snv
|
1.3E-03
|
1.6E-03
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
30 |
1993 |
2017 |
rs137854482
|
1.000 |
0.160 |
15 |
48487389 |
missense variant |
C/T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
30 |
1993 |
2017 |
rs140599
|
0.925 |
0.160 |
15 |
48487317 |
missense variant |
C/T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
30 |
1993 |
2017 |
rs363804
|
1.000 |
0.160 |
15 |
48441771 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
30 |
1993 |
2017 |
rs363815
|
1.000 |
0.160 |
15 |
48437370 |
missense variant |
A/G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
30 |
1993 |
2017 |
rs113001196
|
0.882 |
0.160 |
15 |
48432947 |
stop gained |
G/A
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
29 |
1986 |
2016 |
rs113001196
|
0.882 |
0.160 |
15 |
48432947 |
stop gained |
G/A
|
snv
|
|
|
Overgrowth
|
|
0.700 |
1.000 |
29 |
1986 |
2016 |