rs121434555
|
1.000 |
0.120 |
2 |
237367010 |
missense variant |
A/C
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
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
|
Esophageal carcinoma
|
Digestive System Diseases; Neoplasms
|
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 |
rs115510139
|
0.827 |
0.120 |
2 |
237331726 |
intron variant |
A/T
|
snv
|
|
0.60
|
Malignant neoplasm of esophagus
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs115510139
|
0.827 |
0.120 |
2 |
237331726 |
intron variant |
A/T
|
snv
|
|
0.60
|
Esophageal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs777304794
|
1.000 |
0.120 |
2 |
237366707 |
frameshift variant |
C/-
|
delins
|
4.0E-06
|
7.0E-06
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1230578718
|
1.000 |
0.120 |
2 |
237380914 |
splice donor variant |
C/A
|
snv
|
|
7.0E-06
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2010 |
rs1559234260
|
1.000 |
0.120 |
2 |
237365697 |
splice donor variant |
C/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
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 |
rs35227432
|
1.000 |
0.120 |
2 |
237379103 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
1.5E-03
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1998 |
2010 |
rs886042883
|
1.000 |
0.120 |
2 |
237359205 |
splice donor variant |
C/A;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2005 |
2017 |
rs1553553646
|
1.000 |
0.120 |
2 |
237360140 |
missense variant |
C/A;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1994 |
2013 |
rs886043919
|
0.925 |
0.160 |
2 |
237359361 |
splice donor variant |
C/A;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2013 |
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 |
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 |
rs767517186
|
0.925 |
0.120 |
2 |
237334890 |
splice acceptor variant |
C/G
|
snv
|
1.6E-05
|
4.2E-05
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs767517186
|
0.925 |
0.120 |
2 |
237334890 |
splice acceptor variant |
C/G
|
snv
|
1.6E-05
|
4.2E-05
|
DYSTONIA 27
|
|
0.700 |
|
0 |
|
|
rs397515332
|
1.000 |
0.120 |
2 |
237361138 |
missense variant |
C/G;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1994 |
2017 |
rs886043737
|
1.000 |
0.120 |
2 |
237360158 |
missense variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1993 |
2013 |
rs886044252
|
1.000 |
0.120 |
2 |
237360150 |
missense variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1994 |
2013 |
rs146092501
|
1.000 |
0.120 |
2 |
237371861 |
missense variant |
C/T
|
snv
|
6.2E-03
|
5.9E-03
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1998 |
2007 |
rs1268762655
|
1.000 |
0.120 |
2 |
237350173 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1994 |
2013 |
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 |