rs672601334
|
0.752 |
0.400 |
1 |
155904798 |
missense variant |
G/C
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
7 |
2013 |
2019 |
rs869025194
|
0.882 |
0.280 |
1 |
155904496 |
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 |
1 |
2016 |
2016 |
rs483352822
|
0.776 |
0.360 |
1 |
155904470 |
stop lost |
C/A;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 |
7 |
2013 |
2016 |
rs869025189
|
0.925 |
0.160 |
1 |
155910658 |
missense variant |
C/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 |
5 |
2013 |
2016 |
rs672601335
|
0.882 |
0.160 |
1 |
155904456 |
missense variant |
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 |
4 |
2013 |
2014 |
rs869025191
|
0.827 |
0.160 |
1 |
155904739 |
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
|
0.700 |
1.000 |
3 |
2014 |
2016 |
rs869025193
|
0.925 |
0.160 |
1 |
155904498 |
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 |
2013 |
2016 |
rs869025196
|
1.000 |
0.160 |
1 |
155904489 |
missense variant |
G/A
|
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 |
1 |
2016 |
2016 |
rs730881014
|
0.776 |
0.360 |
1 |
155904494 |
stop gained |
A/C;G;T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs869025190
|
1.000 |
0.160 |
1 |
155910462 |
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 |
|
0 |
|
|
rs869025192
|
1.000 |
0.160 |
1 |
155904499 |
missense variant |
C/G
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs869025195
|
0.790 |
0.280 |
1 |
155904493 |
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 |
|
0 |
|
|
rs869025197
|
0.925 |
0.160 |
1 |
155904475 |
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 |
|
0 |
|
|