rs397507544
|
1.000 |
0.160 |
12 |
112489081 |
missense variant |
C/T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
7 |
2004 |
2008 |
rs397507547
|
0.752 |
0.280 |
12 |
112489086 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
7 |
2002 |
2008 |
rs397507523
|
0.882 |
0.160 |
12 |
112472954 |
missense variant |
A/G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2003 |
2014 |
rs727503380
|
0.925 |
0.160 |
12 |
112450386 |
missense variant |
A/T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2004 |
2017 |
rs121918469
|
0.882 |
0.160 |
12 |
112488454 |
missense variant |
G/C
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2006 |
2009 |
rs397507506
|
0.807 |
0.240 |
12 |
112450354 |
missense variant |
C/A;G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2003 |
2013 |
rs397507512
|
0.925 |
0.160 |
12 |
112450391 |
missense variant |
T/C;G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2003 |
2008 |
rs397507531
|
0.752 |
0.320 |
12 |
112473040 |
missense variant |
T/C;G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2002 |
2009 |
rs397507543
|
0.925 |
0.160 |
12 |
112489078 |
missense variant |
G/A
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2002 |
2010 |
rs397516802
|
1.000 |
0.160 |
12 |
112450397 |
missense variant |
AC/CT
|
mnv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2003 |
2012 |
rs397516810
|
0.925 |
0.160 |
12 |
112477652 |
missense variant |
T/G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2002 |
2009 |
rs121918470
|
0.790 |
0.160 |
12 |
112489105 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2004 |
2006 |
rs267606990
|
0.851 |
0.240 |
12 |
112419116 |
missense variant |
C/T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2003 |
2014 |
rs397507511
|
0.882 |
0.240 |
12 |
112450385 |
missense variant |
G/A;C
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2003 |
2013 |
rs397507542
|
0.790 |
0.320 |
12 |
112489069 |
missense variant |
G/T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2004 |
2008 |
rs376607329
|
0.851 |
0.200 |
12 |
112472981 |
missense variant |
G/A;T
|
snv
|
3.2E-05
|
3.5E-05
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2011 |
2018 |
rs397516803
|
1.000 |
0.160 |
12 |
112450415 |
missense variant |
C/A
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2003 |
2012 |
rs397507504
|
0.925 |
0.160 |
12 |
112450346 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2011 |
2016 |
rs397507507
|
1.000 |
0.160 |
12 |
112450358 |
missense variant |
G/A;C;T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2006 |
2012 |
rs397507525
|
0.925 |
0.160 |
12 |
112472968 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2012 |
2012 |
rs397507527
|
1.000 |
0.160 |
12 |
112472989 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2006 |
2012 |
rs397507530
|
1.000 |
0.160 |
12 |
112473033 |
missense variant |
C/G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2013 |
2016 |
rs397507503
|
1.000 |
0.160 |
12 |
112450335 |
missense variant |
C/T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs397516801
|
0.925 |
0.160 |
12 |
112450389 |
missense variant |
A/G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs397516809
|
1.000 |
0.160 |
12 |
112472961 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |