DES, desmin, 1674

N. diseases: 330; N. variants: 63
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs57965306
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
dbSNP: rs267607490
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
dbSNP: rs267607482
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
dbSNP: rs121913004
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
dbSNP: rs62636495
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
dbSNP: rs121913003
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
dbSNP: rs121913005
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
dbSNP: rs57496341
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
dbSNP: rs62635763
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
dbSNP: rs267607499
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
dbSNP: rs121913000
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
dbSNP: rs57639980
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
dbSNP: rs57955682
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
dbSNP: rs121913001
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
dbSNP: rs61368398
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
dbSNP: rs59962885
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
dbSNP: rs61130669
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
dbSNP: rs57965306
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
dbSNP: rs267607485
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
dbSNP: rs267607486
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
dbSNP: rs59962885
rs59962885
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2007 2007
dbSNP: rs121913002
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
dbSNP: rs58898021
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
dbSNP: rs58999456
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
dbSNP: rs267607488
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