rs121918488
|
0.790 |
0.120 |
10 |
121517379 |
missense variant |
A/C;G;T
|
snv
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
1 |
2000 |
2000 |
rs121918502
|
0.790 |
0.160 |
10 |
121517351 |
missense variant |
G/C
|
snv
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
1 |
2000 |
2000 |
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121913478
|
0.708 |
0.640 |
10 |
121515280 |
missense variant |
T/C
|
snv
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121918487
|
0.716 |
0.440 |
10 |
121517378 |
missense variant |
C/A;G;T
|
snv
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121918491
|
0.716 |
0.440 |
10 |
121517371 |
synonymous variant |
C/T
|
snv
|
4.0E-06
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1434545235
|
0.752 |
0.440 |
10 |
121565500 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1554927408
|
0.742 |
0.480 |
10 |
121515254 |
missense variant |
C/T
|
snv
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs77543610
|
0.667 |
0.560 |
10 |
121520160 |
missense variant |
G/C
|
snv
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs79184941
|
0.617 |
0.600 |
10 |
121520163 |
missense variant |
G/A;C
|
snv
|
5.6E-05;
4.0E-06
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|