rs387907211
|
1.000 |
0.200 |
12 |
21908099 |
missense variant |
G/A
|
snv
|
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
4 |
2012 |
2018 |
rs387907227
|
1.000 |
0.200 |
12 |
21842440 |
missense variant |
C/A;T
|
snv
|
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2012 |
2015 |
rs1165205076
|
1.000 |
0.200 |
12 |
21910852 |
missense variant |
C/A
|
snv
|
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2012 |
2015 |
rs387907208
|
0.851 |
0.200 |
12 |
21842327 |
missense variant |
G/A;C
|
snv
|
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2012 |
2015 |
rs387907209
|
0.925 |
0.200 |
12 |
21842326 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2012 |
2015 |
rs387907210
|
1.000 |
0.200 |
12 |
21844884 |
missense variant |
C/T
|
snv
|
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2012 |
2015 |
rs387907228
|
0.925 |
0.200 |
12 |
21842441 |
missense variant |
G/A
|
snv
|
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2012 |
2015 |
rs387907229
|
1.000 |
0.200 |
12 |
21845641 |
missense variant |
A/G
|
snv
|
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2012 |
2015 |
rs387907230
|
1.000 |
0.200 |
12 |
21933888 |
missense variant |
G/A
|
snv
|
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2012 |
2015 |
rs12298510
|
1.000 |
0.200 |
12 |
21828977 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs761784169
|
0.882 |
0.200 |
12 |
21805251 |
frameshift variant |
-/A
|
ins
|
4.0E-06;
4.0E-06;
5.4E-04
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057516044
|
0.851 |
0.240 |
12 |
21913005 |
missense variant |
A/G
|
snv
|
|
|
Cantu syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |