rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Broad thumbs
|
|
0.700 |
|
0 |
|
|
rs199564797
|
0.742 |
0.360 |
1 |
25809150 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
Broad thumbs
|
|
0.700 |
|
0 |
|
|
rs745886248
|
0.742 |
0.360 |
1 |
25811710 |
missense variant |
G/A;C;T
|
snv
|
4.3E-06;
4.3E-06;
4.3E-06
|
|
Broad thumbs
|
|
0.700 |
|
0 |
|
|
rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Byzanthine arch palate
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs199564797
|
0.742 |
0.360 |
1 |
25809150 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
Byzanthine arch palate
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs745886248
|
0.742 |
0.360 |
1 |
25811710 |
missense variant |
G/A;C;T
|
snv
|
4.3E-06;
4.3E-06;
4.3E-06
|
|
Byzanthine arch palate
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Congenital Fiber Type Disproportion
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.810 |
1.000 |
5 |
2002 |
2013 |
rs1553198464
|
1.000 |
0.080 |
1 |
25800218 |
start lost |
AGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCC/-
|
delins
|
|
|
Congenital Fiber Type Disproportion
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199564797
|
0.742 |
0.360 |
1 |
25809150 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
Congenital Fiber Type Disproportion
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs745886248
|
0.742 |
0.360 |
1 |
25811710 |
missense variant |
G/A;C;T
|
snv
|
4.3E-06;
4.3E-06;
4.3E-06
|
|
Congenital Fiber Type Disproportion
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045950
|
1.000 |
0.080 |
1 |
25809104 |
protein altering variant |
-/CCT
|
delins
|
|
|
Congenital Fiber Type Disproportion
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Congenital hypoplasia of radius
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs199564797
|
0.742 |
0.360 |
1 |
25809150 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
Congenital hypoplasia of radius
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs745886248
|
0.742 |
0.360 |
1 |
25811710 |
missense variant |
G/A;C;T
|
snv
|
4.3E-06;
4.3E-06;
4.3E-06
|
|
Congenital hypoplasia of radius
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Decreased tendon reflex
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199564797
|
0.742 |
0.360 |
1 |
25809150 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
Decreased tendon reflex
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs745886248
|
0.742 |
0.360 |
1 |
25811710 |
missense variant |
G/A;C;T
|
snv
|
4.3E-06;
4.3E-06;
4.3E-06
|
|
Decreased tendon reflex
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.810 |
1.000 |
10 |
2001 |
2013 |
rs121908182
|
1.000 |
0.120 |
1 |
25809096 |
missense variant |
G/A
|
snv
|
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2001 |
2010 |
rs121908186
|
1.000 |
0.120 |
1 |
25812763 |
missense variant |
G/C
|
snv
|
4.0E-06
|
7.0E-06
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2001 |
2010 |
rs779162837
|
1.000 |
0.120 |
1 |
25813899 |
missense variant |
G/A;T
|
snv
|
1.6E-05;
4.0E-06
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2001 |
2010 |
rs121908185
|
1.000 |
0.120 |
1 |
25813890 |
missense variant |
G/A
|
snv
|
4.8E-05
|
6.3E-05
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2001 |
2009 |
rs121908187
|
1.000 |
0.120 |
1 |
25812789 |
missense variant |
T/G
|
snv
|
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2001 |
2009 |
rs749911126
|
1.000 |
0.120 |
1 |
25811462 |
missense variant |
A/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2001 |
2009 |
rs776738184
|
1.000 |
0.120 |
1 |
25809688 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2001 |
2009 |