rs886042883
|
1.000 |
0.120 |
2 |
237359205 |
splice donor variant |
C/A;T
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
13 |
2001 |
2016 |
rs6720283
|
0.882 |
0.120 |
2 |
237401239 |
intron variant |
G/A
|
snv
|
|
0.31
|
Secondary malignant neoplasm of lymph node
|
Pathological Conditions, Signs and Symptoms; Neoplasms
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs398124126
|
0.882 |
0.160 |
2 |
237361120 |
splice donor variant |
C/T
|
snv
|
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2005 |
2009 |
rs778940391
|
1.000 |
0.160 |
2 |
237367167 |
missense variant |
C/T
|
snv
|
1.6E-04
|
9.1E-05
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs80272723
|
1.000 |
0.160 |
2 |
237371833 |
missense variant |
C/A;T
|
snv
|
1.0E-02
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs886043113
|
1.000 |
0.160 |
2 |
237347812 |
stop gained |
G/A
|
snv
|
4.1E-06
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs886043919
|
0.925 |
0.160 |
2 |
237359361 |
splice donor variant |
C/A;T
|
snv
|
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs112638391
|
1.000 |
0.160 |
2 |
237374900 |
missense variant |
C/T
|
snv
|
3.0E-03
|
3.0E-03
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121434554
|
1.000 |
0.160 |
2 |
237381419 |
stop gained |
G/A
|
snv
|
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398124119
|
0.882 |
0.160 |
2 |
237395121 |
stop gained |
G/A
|
snv
|
4.4E-05
|
2.8E-05
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs764193290
|
0.882 |
0.160 |
2 |
237342163 |
splice acceptor variant |
T/-
|
del
|
4.0E-06
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs771941724
|
1.000 |
0.160 |
2 |
237363366 |
stop gained |
G/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797044988
|
0.882 |
0.160 |
2 |
237359390 |
splice acceptor variant |
T/G
|
snv
|
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs115510139
|
0.827 |
0.120 |
2 |
237331726 |
intron variant |
A/T
|
snv
|
|
0.60
|
Carcinoma of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs115510139
|
0.827 |
0.120 |
2 |
237331726 |
intron variant |
A/T
|
snv
|
|
0.60
|
Malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs115510139
|
0.827 |
0.120 |
2 |
237331726 |
intron variant |
A/T
|
snv
|
|
0.60
|
Primary malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs13032404
|
0.882 |
0.080 |
2 |
237324840 |
intron variant |
G/A
|
snv
|
0.29
|
0.26
|
Primary malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs13032404
|
0.882 |
0.080 |
2 |
237324840 |
intron variant |
G/A
|
snv
|
0.29
|
0.26
|
Malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs13032404
|
0.882 |
0.080 |
2 |
237324840 |
intron variant |
G/A
|
snv
|
0.29
|
0.26
|
Carcinoma of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs3736341
|
0.882 |
0.080 |
2 |
237361902 |
intron variant |
T/C
|
snv
|
|
6.2E-02
|
Malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs3736341
|
0.882 |
0.080 |
2 |
237361902 |
intron variant |
T/C
|
snv
|
|
6.2E-02
|
Carcinoma of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs3736341
|
0.882 |
0.080 |
2 |
237361902 |
intron variant |
T/C
|
snv
|
|
6.2E-02
|
Primary malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs535661345
|
0.925 |
0.120 |
2 |
237372173 |
missense variant |
C/T
|
snv
|
2.0E-04
|
2.1E-05
|
Myopathy
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045479
|
|
|
2 |
237361150 |
stop gained |
G/A
|
snv
|
|
|
Myopathy
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs113155945
|
1.000 |
0.080 |
2 |
237378714 |
missense variant |
C/T
|
snv
|
2.6E-02
|
1.1E-02
|
Liver carcinoma
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2018 |
2018 |