rs202247812
|
1.000 |
0.160 |
12 |
25225717 |
missense variant |
T/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 |
rs727504662
|
0.925 |
0.160 |
12 |
25227310 |
missense variant |
T/A
|
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 |
rs121913240
|
0.672 |
0.440 |
12 |
25227342 |
missense variant |
T/A;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 |
1 |
2010 |
2010 |
rs193929331
|
0.925 |
0.160 |
12 |
25245372 |
missense variant |
T/C
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
8 |
2007 |
2014 |
rs397517042
|
0.925 |
0.200 |
12 |
25209896 |
missense variant |
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 |
2007 |
2007 |
rs104894361
|
0.882 |
0.240 |
12 |
25245370 |
missense variant |
T/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 |
1 |
2007 |
2007 |
rs104894362
|
0.882 |
0.200 |
12 |
25209894 |
missense variant |
G/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 |
rs121913530
|
0.583 |
0.640 |
12 |
25245351 |
missense variant |
C/A;G;T
|
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 |
rs104894365
|
0.827 |
0.320 |
12 |
25245345 |
missense variant |
C/T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.720 |
1.000 |
9 |
2006 |
2018 |
rs104894364
|
0.925 |
0.160 |
12 |
25227351 |
missense variant |
G/A
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
8 |
2006 |
2013 |
rs104894360
|
0.724 |
0.560 |
12 |
25209904 |
missense variant |
T/A;C
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.720 |
1.000 |
7 |
2006 |
2008 |
rs727503108
|
0.882 |
0.280 |
12 |
25227345 |
missense variant |
C/A
|
snv
|
4.0E-06
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
5 |
2006 |
2013 |
rs104894359
|
0.851 |
0.200 |
12 |
25227346 |
missense variant |
C/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 |
3 |
2006 |
2011 |
rs397517041
|
1.000 |
0.160 |
12 |
25209908 |
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 |
1 |
2006 |
2006 |
rs727503110
|
0.882 |
0.160 |
12 |
25245320 |
missense variant |
T/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 |
5 |
2002 |
2011 |
rs104894366
|
0.776 |
0.400 |
12 |
25245284 |
missense variant |
G/A;C
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
5 |
1993 |
2011 |
rs727503109
|
0.752 |
0.320 |
12 |
25245277 |
missense variant |
T/C
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
1993 |
2009 |