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 |
rs121918453
|
0.732 |
0.280 |
12 |
112450394 |
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
|
0.710 |
1.000 |
18 |
2002 |
2009 |
rs121918454
|
0.742 |
0.280 |
12 |
112450395 |
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
|
0.710 |
1.000 |
8 |
2001 |
2014 |
rs121918455
|
0.695 |
0.440 |
12 |
112477720 |
missense variant |
A/C;G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
9 |
2002 |
2017 |
rs121918456
|
0.752 |
0.280 |
12 |
112473023 |
missense variant |
A/C;G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
15 |
2002 |
2011 |
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 |
rs121918459
|
0.662 |
0.440 |
12 |
112450368 |
missense variant |
A/G
|
snv
|
1.2E-05
|
7.0E-06
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.720 |
0.923 |
13 |
2001 |
2013 |
rs121918460
|
0.708 |
0.400 |
12 |
112450364 |
missense variant |
T/A;G
|
snv
|
4.0E-06
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
8 |
2002 |
2012 |
rs121918461
|
0.827 |
0.240 |
12 |
112450362 |
missense variant |
A/C;G;T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.720 |
1.000 |
27 |
2001 |
2018 |
rs121918462
|
0.742 |
0.320 |
12 |
112450398 |
missense variant |
C/T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.740 |
1.000 |
24 |
2002 |
2015 |
rs121918463
|
0.851 |
0.240 |
12 |
112477651 |
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
|
0.710 |
1.000 |
6 |
2002 |
2012 |
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 |
rs121918466
|
0.752 |
0.280 |
12 |
112450416 |
missense variant |
A/G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.730 |
1.000 |
11 |
2001 |
2009 |
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 |
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 |
rs1398859175
|
1.000 |
0.160 |
12 |
112477882 |
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 |
|
0 |
|
|
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 |
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 |
rs28933386
|
0.752 |
0.400 |
12 |
112477719 |
missense variant |
A/G
|
snv
|
1.2E-05
|
7.0E-06
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.720 |
1.000 |
15 |
2001 |
2019 |
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 |
rs397507501
|
0.882 |
0.160 |
12 |
112446385 |
missense variant |
A/G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
9 |
2002 |
2013 |
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 |
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 |
rs397507505
|
0.827 |
0.240 |
12 |
112450352 |
missense variant |
A/C;G;T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
17 |
2003 |
2015 |
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 |