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 |
6 |
1993 |
2017 |
rs137854468
|
0.851 |
0.160 |
15 |
48487396 |
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 |
5 |
1976 |
2013 |
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 |
3 |
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 |
0 |
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 |
0 |
1993 |
2017 |
rs111401431
|
0.763 |
0.200 |
15 |
48468097 |
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 |
13 |
1996 |
2017 |
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 |
9 |
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 |
9 |
1993 |
2017 |
rs112728248
|
0.925 |
0.160 |
15 |
48448812 |
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 |
8 |
1973 |
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 |
8 |
1993 |
2017 |
rs111984349
|
0.763 |
0.200 |
15 |
48415759 |
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 |
7 |
1999 |
2014 |
rs113544411
|
0.925 |
0.160 |
15 |
48421652 |
stop gained |
G/A;C;T
|
snv
|
1.2E-05
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
7 |
1996 |
2017 |
rs25403
|
0.882 |
0.200 |
15 |
48613073 |
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 |
7 |
2002 |
2016 |
rs112836174
|
0.925 |
0.160 |
15 |
48430791 |
missense variant |
A/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 |
5 |
2002 |
2009 |
rs137854464
|
0.851 |
0.200 |
15 |
48425483 |
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 |
5 |
1993 |
2016 |
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 |
5 |
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 |
5 |
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 |
4 |
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 |
3 |
1993 |
2017 |
rs111929350
|
1.000 |
0.160 |
15 |
48452603 |
missense variant |
C/A;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 |
2 |
1996 |
2017 |
rs111588631
|
1.000 |
0.160 |
15 |
48428391 |
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 |
0 |
1996 |
2017 |
rs112375043
|
0.925 |
0.160 |
15 |
48472594 |
stop gained |
G/A;C;T
|
snv
|
3.6E-05
|
1.4E-05
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
0 |
1996 |
2017 |
rs112660651
|
0.925 |
0.160 |
15 |
48610808 |
missense variant |
C/A;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 |
0 |
1996 |
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 |
0 |
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 |
0 |
1993 |
2017 |