rs121918462
|
0.742 |
0.320 |
12 |
112450398 |
missense variant |
C/T
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
35 |
2001 |
2017 |
rs28933386
|
0.752 |
0.400 |
12 |
112477719 |
missense variant |
A/G
|
snv
|
1.2E-05
|
7.0E-06
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
35 |
2001 |
2018 |
rs397507549
|
0.742 |
0.240 |
12 |
112489104 |
missense variant |
C/A;G
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
21 |
2001 |
2017 |
rs397507547
|
0.752 |
0.280 |
12 |
112489086 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
2001 |
2019 |
rs121918453
|
0.732 |
0.280 |
12 |
112450394 |
missense variant |
G/A;C;T
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs121918454
|
0.742 |
0.280 |
12 |
112450395 |
missense variant |
C/A;G;T
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs121918455
|
0.695 |
0.440 |
12 |
112477720 |
missense variant |
A/C;G
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs121918456
|
0.752 |
0.280 |
12 |
112473023 |
missense variant |
A/C;G
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs121918458
|
0.807 |
0.320 |
12 |
112489080 |
missense variant |
T/A;G
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs121918459
|
0.662 |
0.440 |
12 |
112450368 |
missense variant |
A/G
|
snv
|
1.2E-05
|
7.0E-06
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs121918460
|
0.708 |
0.400 |
12 |
112450364 |
missense variant |
T/A;G
|
snv
|
4.0E-06
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs121918461
|
0.827 |
0.240 |
12 |
112450362 |
missense variant |
A/C;G;T
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs121918463
|
0.851 |
0.240 |
12 |
112477651 |
missense variant |
T/A;C;G
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs121918466
|
0.752 |
0.280 |
12 |
112450416 |
missense variant |
A/G
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs121918467
|
0.807 |
0.280 |
12 |
112486482 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
1.2E-05
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs267606990
|
0.851 |
0.240 |
12 |
112419116 |
missense variant |
C/T
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs397507510
|
0.776 |
0.280 |
12 |
112450361 |
missense variant |
G/A;C;T
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs397507514
|
0.790 |
0.240 |
12 |
112450408 |
missense variant |
G/C;T
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs397507517
|
0.827 |
0.160 |
12 |
112450497 |
missense variant |
A/C
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs397507520
|
0.658 |
0.520 |
12 |
112453279 |
missense variant |
G/C;T
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs397507539
|
0.851 |
0.160 |
12 |
112489047 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs397507545
|
0.708 |
0.560 |
12 |
112489083 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
2001 |
2017 |
rs397507523
|
0.882 |
0.160 |
12 |
112472954 |
missense variant |
A/G
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
15 |
2001 |
2017 |
rs397507531
|
0.752 |
0.320 |
12 |
112473040 |
missense variant |
T/C;G
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
15 |
2001 |
2017 |
rs376607329
|
0.851 |
0.200 |
12 |
112472981 |
missense variant |
G/A;T
|
snv
|
3.2E-05
|
3.5E-05
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
2 |
2010 |
2014 |