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 |
rs794727188
|
1.000 |
0.120 |
2 |
237360131 |
missense variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs121434553
|
1.000 |
0.120 |
2 |
237367151 |
missense variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
|
0 |
|
|
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 |
rs138049094
|
1.000 |
0.120 |
2 |
237369064 |
missense variant |
T/C
|
snv
|
5.1E-04
|
3.0E-04
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1998 |
2010 |
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 |
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 |
rs11903206
|
1.000 |
0.120 |
2 |
237336278 |
missense variant |
G/A
|
snv
|
3.9E-03
|
1.4E-02
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1998 |
2007 |
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 |
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 |
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 |
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 |
rs1553553267
|
1.000 |
0.120 |
2 |
237359235 |
splice acceptor variant |
TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT/-
|
delins
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2010 |
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 |
rs1559225993
|
1.000 |
0.120 |
2 |
237359252 |
splice acceptor variant |
T/C
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2010 |
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 |
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 |
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 |
rs182976977
|
1.000 |
|
2 |
237333533 |
missense variant |
G/A;C
|
snv
|
1.2E-05;
8.2E-04
|
|
DYSTONIA 27
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs200478135
|
1.000 |
0.120 |
2 |
237363363 |
missense variant |
C/T
|
snv
|
4.8E-05
|
3.5E-05
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs2645775
|
|
|
2 |
237369499 |
intron variant |
G/A
|
snv
|
|
0.24
|
Vital capacity
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs398124126
|
0.882 |
0.160 |
2 |
237361120 |
splice donor variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs541928674
|
1.000 |
|
2 |
237344516 |
missense variant |
C/T
|
snv
|
2.4E-05
|
1.4E-05
|
DYSTONIA 27
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |