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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs267607491
|
1.000 |
0.160 |
2 |
219425956 |
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 |
20 |
1998 |
2017 |
rs57694264
|
1.000 |
0.160 |
2 |
219421517 |
missense variant |
G/A
|
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 |
rs60798368
|
0.925 |
0.160 |
2 |
219418508 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
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 |
rs267607483
|
1.000 |
0.160 |
2 |
219420349 |
splice region variant |
A/G;T
|
snv
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
7 |
2000 |
2013 |
rs267607483
|
1.000 |
0.160 |
2 |
219420349 |
splice region variant |
A/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 |
7 |
2000 |
2013 |
rs61726467
|
0.882 |
0.160 |
2 |
219421553 |
stop gained |
G/A;T
|
snv
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2007 |
2016 |
rs727504448
|
|
|
2 |
219420116 |
frameshift variant |
G/-
|
del
|
|
7.0E-06
|
Neuromuscular Diseases
|
Nervous System Diseases
|
0.700 |
1.000 |
5 |
2000 |
2012 |
rs727504448
|
|
|
2 |
219420116 |
frameshift variant |
G/-
|
del
|
|
7.0E-06
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2000 |
2012 |
rs62636495
|
0.925 |
0.200 |
2 |
219418500 |
missense variant |
C/A;T
|
snv
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2007 |
2009 |