rs113871094
|
0.683 |
0.320 |
15 |
48465820 |
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 |
5 |
2001 |
2011 |
rs1232880706
|
0.689 |
0.440 |
15 |
48526247 |
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 |
|
|
rs727503057
|
0.708 |
0.280 |
15 |
48505106 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
16 |
1973 |
2015 |
rs137854466
|
0.724 |
0.320 |
15 |
48411280 |
stop gained |
G/A;C
|
snv
|
4.0E-05;
8.0E-06
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
1994 |
2002 |
rs727503054
|
0.732 |
0.200 |
15 |
48420752 |
missense variant |
A/G;T
|
snv
|
1.6E-05
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
14 |
1999 |
2016 |
rs1555397413
|
0.732 |
0.280 |
15 |
48470705 |
missense variant |
T/C
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
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 |
rs730880099
|
0.742 |
0.200 |
15 |
48510125 |
missense variant |
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 |
8 |
1973 |
2010 |
rs112550005
|
0.742 |
0.240 |
15 |
48425829 |
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 |
2 |
2002 |
2016 |
rs1566911709
|
0.742 |
0.240 |
15 |
48495502 |
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 |
|
|
rs193922185
|
0.752 |
0.200 |
15 |
48505037 |
missense variant |
G/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
8 |
1973 |
2017 |
rs397515757
|
0.752 |
0.200 |
15 |
48515382 |
splice region variant |
C/T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
8 |
1999 |
2015 |
rs794728195
|
0.752 |
0.200 |
15 |
48495155 |
missense variant |
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 |
5 |
2004 |
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 |
23 |
1996 |
2017 |
rs193922219
|
0.763 |
0.280 |
15 |
48446701 |
splice region variant |
C/A;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
13 |
1995 |
2014 |
rs193922228
|
0.763 |
0.200 |
15 |
48430736 |
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
|
0.700 |
1.000 |
10 |
1999 |
2016 |
rs1555400373
|
0.763 |
0.200 |
15 |
48515393 |
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 |
8 |
1973 |
2008 |
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 |
rs140583
|
0.763 |
0.200 |
15 |
48495219 |
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 |
6 |
1991 |
2015 |
rs113543334
|
0.763 |
0.200 |
15 |
48432944 |
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 |
4 |
2006 |
2009 |
rs193922204
|
0.763 |
0.200 |
15 |
48468542 |
splice region variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2001 |
2009 |
rs794728334
|
0.763 |
0.200 |
15 |
48437069 |
stop gained |
C/A;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
2 |
2019 |
2019 |
rs113422242
|
0.763 |
0.240 |
15 |
48510065 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2000 |
2000 |
rs397515804
|
0.776 |
0.200 |
15 |
48472628 |
missense variant |
C/A;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
9 |
1973 |
2014 |
rs397515789
|
0.776 |
0.240 |
15 |
48488112 |
splice donor variant |
C/A;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2005 |
2009 |