rs121434409
|
0.925 |
0.120 |
9 |
128541124 |
missense variant |
T/C
|
snv
|
3.6E-05
|
2.1E-05
|
Arthrogryposis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs121434407
|
0.882 |
0.120 |
9 |
128536414 |
missense variant |
G/A
|
snv
|
2.7E-04
|
9.8E-05
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
7 |
1985 |
2017 |
rs121434407
|
0.882 |
0.120 |
9 |
128536414 |
missense variant |
G/A
|
snv
|
2.7E-04
|
9.8E-05
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1985 |
2017 |
rs121434407
|
0.882 |
0.120 |
9 |
128536414 |
missense variant |
G/A
|
snv
|
2.7E-04
|
9.8E-05
|
Dysmorphic features
|
|
0.700 |
1.000 |
7 |
1985 |
2017 |
rs1336481358
|
1.000 |
0.120 |
9 |
128539614 |
splice acceptor variant |
A/G
|
snv
|
8.0E-06
|
7.0E-06
|
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1564162129
|
1.000 |
0.120 |
9 |
128541151 |
missense variant |
C/T
|
snv
|
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833693
|
0.925 |
0.120 |
9 |
128522658 |
intron variant |
A/G;T
|
snv
|
1.5E-05;
9.7E-04
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833693
|
0.925 |
0.120 |
9 |
128522658 |
intron variant |
A/G;T
|
snv
|
1.5E-05;
9.7E-04
|
|
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs765269946
|
1.000 |
0.120 |
9 |
128536458 |
missense variant |
C/T
|
snv
|
3.6E-05
|
2.8E-05
|
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121434407
|
0.882 |
0.120 |
9 |
128536414 |
missense variant |
G/A
|
snv
|
2.7E-04
|
9.8E-05
|
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2018 |
2018 |
rs121434408
|
1.000 |
0.120 |
9 |
128538058 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.1E-05
|
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2008 |
2008 |
rs121434409
|
0.925 |
0.120 |
9 |
128541124 |
missense variant |
T/C
|
snv
|
3.6E-05
|
2.1E-05
|
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2008 |
2008 |
rs121434407
|
0.882 |
0.120 |
9 |
128536414 |
missense variant |
G/A
|
snv
|
2.7E-04
|
9.8E-05
|
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
2 |
2008 |
2018 |