rs762834512
|
1.000 |
0.160 |
22 |
20996740 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2010 |
2019 |
rs1275511136
|
1.000 |
0.160 |
22 |
20997287 |
missense variant |
T/C;G
|
snv
|
|
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2018 |
2019 |
rs1287917092
|
1.000 |
0.160 |
22 |
20989645 |
missense variant |
T/C
|
snv
|
8.0E-06
|
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2018 |
2019 |
rs1327579827
|
1.000 |
0.160 |
22 |
20995995 |
missense variant |
C/A;G
|
snv
|
|
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2018 |
2019 |
rs1034395178
|
0.716 |
0.480 |
22 |
20996071 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1459786357
|
1.000 |
0.160 |
22 |
20982334 |
5 prime UTR variant |
T/A;C
|
snv
|
8.0E-06;
1.6E-05
|
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1249726034
|
1.000 |
0.160 |
22 |
20996679 |
non coding transcript exon variant |
C/A;G
|
snv
|
4.0E-06;
4.0E-06;
4.0E-06
|
7.0E-06
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1374240053
|
1.000 |
0.160 |
22 |
20994629 |
stop gained |
G/A;C;T
|
snv
|
4.0E-06
|
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs150419186
|
1.000 |
0.160 |
22 |
20989659 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
1.2E-05;
7.2E-05
|
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1569154492
|
1.000 |
0.160 |
22 |
20987544 |
missense variant |
C/G
|
snv
|
|
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs370638947
|
1.000 |
0.160 |
22 |
20995983 |
missense variant |
G/A;C;T
|
snv
|
2.4E-05;
4.0E-06;
4.0E-06
|
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs757502214
|
1.000 |
0.160 |
22 |
20988117 |
missense variant |
C/T
|
snv
|
1.2E-05
|
2.8E-05
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs761685529
|
1.000 |
0.160 |
22 |
20995490 |
splice region variant |
C/T
|
snv
|
4.1E-05
|
8.4E-05
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs770933647
|
1.000 |
0.160 |
22 |
20993712 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs777243508
|
0.925 |
0.160 |
22 |
20993977 |
stop gained |
G/A
|
snv
|
1.4E-04
|
1.8E-04
|
Noonan Syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|