rs1085307090
|
0.882 |
0.240 |
8 |
144515325 |
splice donor variant |
C/A
|
snv
|
|
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2000 |
2003 |
rs137853229
|
0.851 |
0.240 |
8 |
144513412 |
stop gained |
G/A
|
snv
|
1.2E-04
|
8.4E-05
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs137853230
|
1.000 |
0.240 |
8 |
144512033 |
stop gained |
G/A
|
snv
|
|
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs137853231
|
1.000 |
0.240 |
8 |
144516313 |
stop gained |
C/G;T
|
snv
|
4.1E-06;
4.1E-06;
4.1E-06
|
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs386833843
|
0.925 |
0.240 |
8 |
144515324 |
splice donor variant |
A/-
|
del
|
|
4.2E-04
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs386833844
|
0.925 |
0.240 |
8 |
144515236 |
missense variant |
G/A
|
snv
|
2.4E-05
|
1.4E-05
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs386833845
|
0.827 |
0.240 |
8 |
144514983 |
frameshift variant |
A/-
|
del
|
2.4E-04
|
3.3E-04
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs386833846
|
1.000 |
0.240 |
8 |
144514098 |
frameshift variant |
CCCG/-
|
del
|
|
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs386833847
|
1.000 |
0.240 |
8 |
144514096 |
frameshift variant |
TCCC/-
|
delins
|
|
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs386833849
|
0.925 |
0.240 |
8 |
144513713 |
splice acceptor variant |
C/A;G;T
|
snv
|
|
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs386833851
|
0.925 |
0.240 |
8 |
144513126 |
stop gained |
G/A
|
snv
|
5.4E-05
|
4.3E-05
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs386833852
|
0.925 |
0.240 |
8 |
144512308 |
frameshift variant |
T/-
|
del
|
|
4.9E-05
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs386833853
|
1.000 |
0.240 |
8 |
144512166 |
stop gained |
T/A;G
|
snv
|
4.1E-06
|
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs386833854
|
1.000 |
0.240 |
8 |
144511458 |
frameshift variant |
CG/-
|
del
|
|
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|