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 |
rs397507525
|
0.925 |
0.160 |
12 |
112472968 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
17 |
2001 |
2017 |
rs397507526
|
1.000 |
0.160 |
12 |
112472972 |
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
|
0.700 |
1.000 |
17 |
2001 |
2017 |
rs397507529
|
0.851 |
0.160 |
12 |
112473031 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
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 |
rs397507543
|
0.925 |
0.160 |
12 |
112489078 |
missense variant |
G/A
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
17 |
2001 |
2017 |
rs201787206
|
1.000 |
0.160 |
12 |
112477722 |
missense variant |
A/G
|
snv
|
5.0E-04
|
2.5E-04
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
15 |
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 |
rs397516797
|
1.000 |
0.160 |
12 |
112502222 |
missense variant |
C/T
|
snv
|
4.0E-05
|
7.0E-05
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
15 |
2001 |
2017 |
rs886043790
|
1.000 |
0.160 |
12 |
112450355 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
15 |
2001 |
2017 |
rs397507501
|
0.882 |
0.160 |
12 |
112446385 |
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 |
2 |
2010 |
2014 |
rs121918470
|
0.790 |
0.160 |
12 |
112489105 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397507504
|
0.925 |
0.160 |
12 |
112450346 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397507524
|
1.000 |
0.160 |
12 |
112472949 |
inframe insertion |
ACA/-;ACAACA
|
delins
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397507540
|
0.851 |
0.160 |
12 |
112489048 |
missense variant |
C/A;T
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397507541
|
0.827 |
0.160 |
12 |
112489068 |
missense variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397516801
|
0.925 |
0.160 |
12 |
112450389 |
missense variant |
A/G
|
snv
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs765642157
|
1.000 |
0.160 |
12 |
112472969 |
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
|
0.700 |
|
0 |
|
|
rs80338836
|
1.000 |
0.160 |
12 |
112450357 |
inframe deletion |
GTG/-
|
delins
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs869025574
|
1.000 |
0.160 |
12 |
112450360 |
inframe deletion |
GAT/-
|
delins
|
|
|
Noonan Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |
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 |