rs57965306
|
0.925 |
0.160 |
2 |
219421365 |
missense variant |
G/A;C
|
snv
|
2.8E-05
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.820 |
1.000 |
8 |
2005 |
2019 |
rs267607490
|
0.925 |
0.160 |
2 |
219425734 |
missense variant |
C/T
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
30 |
1998 |
2017 |
rs267607482
|
1.000 |
0.160 |
2 |
219421340 |
missense variant |
A/G
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
22 |
1998 |
2017 |
rs121913004
|
1.000 |
0.160 |
2 |
219421482 |
missense variant |
A/C
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
20 |
1998 |
2017 |
rs62636495
|
0.925 |
0.200 |
2 |
219418500 |
missense variant |
C/A;T
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
28 |
1998 |
2017 |
rs121913003
|
0.882 |
0.200 |
2 |
219421532 |
missense variant |
C/T
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
27 |
1998 |
2017 |
rs121913005
|
1.000 |
0.160 |
2 |
219425699 |
missense variant |
C/A;T
|
snv
|
4.5E-06
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
26 |
1998 |
2017 |
rs57496341
|
1.000 |
0.160 |
2 |
219420943 |
missense variant |
T/C;G
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
23 |
1998 |
2017 |
rs62635763
|
1.000 |
0.160 |
2 |
219423787 |
missense variant |
C/A;T
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
23 |
1998 |
2017 |
rs267607499
|
0.851 |
0.160 |
2 |
219418809 |
missense variant |
A/G;T
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
22 |
1998 |
2017 |
rs121913000
|
1.000 |
0.160 |
2 |
219421394 |
missense variant |
G/C
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
21 |
1998 |
2017 |
rs57639980
|
1.000 |
0.160 |
2 |
219421350 |
missense variant |
T/C
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
21 |
1998 |
2017 |
rs57955682
|
1.000 |
0.160 |
2 |
219421470 |
missense variant |
T/C
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
21 |
1998 |
2017 |
rs121913001
|
1.000 |
0.160 |
2 |
219421494 |
missense variant |
A/G;T
|
snv
|
1.2E-05
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
20 |
1998 |
2017 |
rs61368398
|
1.000 |
0.160 |
2 |
219421380 |
missense variant |
G/A;C;T
|
snv
|
3.2E-05
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
2 |
2011 |
2014 |
rs59962885
|
0.807 |
0.200 |
2 |
219420939 |
missense variant |
G/A;C;T
|
snv
|
6.8E-05
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
2014 |
2014 |
rs61130669
|
0.925 |
0.160 |
2 |
219421511 |
missense variant |
G/T
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
2014 |
2014 |
rs57965306
|
0.925 |
0.160 |
2 |
219421365 |
missense variant |
G/A;C
|
snv
|
2.8E-05
|
|
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs267607485
|
0.925 |
0.160 |
2 |
219425720 |
missense variant |
A/C
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
22 |
1998 |
2017 |
rs267607486
|
1.000 |
0.160 |
2 |
219420346 |
missense variant |
G/A;C
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
21 |
1998 |
2017 |
rs59962885
|
0.807 |
0.200 |
2 |
219420939 |
missense variant |
G/A;C;T
|
snv
|
6.8E-05
|
|
Muscle Weakness
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2007 |
2007 |
rs121913002
|
0.851 |
0.160 |
2 |
219425727 |
missense variant |
C/A;G;T
|
snv
|
6.5E-05;
5.6E-04
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
21 |
1998 |
2017 |
rs58898021
|
0.925 |
0.160 |
2 |
219421385 |
missense variant |
G/C
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
21 |
1998 |
2017 |
rs58999456
|
1.000 |
0.160 |
2 |
219418467 |
missense variant |
G/T
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
21 |
1998 |
2017 |
rs267607488
|
1.000 |
0.160 |
2 |
219425732 |
missense variant |
C/T
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
20 |
1998 |
2017 |