rs121918464
|
0.708 |
0.440 |
12 |
112450406 |
missense variant |
G/A;C
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs201247699
|
0.925 |
0.240 |
12 |
112486476 |
missense variant |
G/C
|
snv
|
6.4E-05
|
2.1E-05
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs397507548
|
0.851 |
0.160 |
12 |
112489093 |
missense variant |
A/C
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs397509345
|
0.851 |
0.160 |
12 |
112489093 |
missense variant |
AG/CC
|
mnv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1057517917
|
0.925 |
0.200 |
12 |
112450368 |
missense variant |
AT/GC
|
mnv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.020 |
0.500 |
2 |
2006 |
2012 |
rs397507540
|
0.851 |
0.160 |
12 |
112489048 |
missense variant |
C/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 |
13 |
2004 |
2014 |
rs121918458
|
0.807 |
0.320 |
12 |
112489080 |
missense variant |
T/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 |
12 |
2002 |
2013 |
rs397507549
|
0.742 |
0.240 |
12 |
112489104 |
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 |
10 |
2005 |
2012 |
rs397507517
|
0.827 |
0.160 |
12 |
112450497 |
missense variant |
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 |
9 |
2002 |
2011 |
rs397507529
|
0.851 |
0.160 |
12 |
112473031 |
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 |
9 |
2001 |
2011 |
rs397507510
|
0.776 |
0.280 |
12 |
112450361 |
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 |
7 |
2002 |
2014 |
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 |