rs58034145
|
0.827 |
0.160 |
1 |
156134830 |
missense variant |
A/C
|
snv
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.040 |
0.750 |
4 |
2013 |
2019 |
rs58932704
|
0.776 |
0.200 |
1 |
156136413 |
missense variant |
C/T
|
snv
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.030 |
1.000 |
3 |
2005 |
2016 |
rs57520892
|
0.776 |
0.200 |
1 |
156137204 |
missense variant |
G/A;C
|
snv
|
4.1E-05
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.020 |
1.000 |
2 |
2003 |
2015 |
rs11575937
|
0.653 |
0.480 |
1 |
156136985 |
missense variant |
G/A;T
|
snv
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs267607545
|
0.882 |
0.200 |
1 |
156136121 |
missense variant |
G/A;C;T
|
snv
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs267607594
|
0.925 |
0.120 |
1 |
156130745 |
missense variant |
T/C
|
snv
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs57920071
|
0.763 |
0.320 |
1 |
156136984 |
missense variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs58571998
|
0.925 |
0.160 |
1 |
156137197 |
frameshift variant |
-/CTGC
|
delins
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs58912633
|
0.851 |
0.240 |
1 |
156130688 |
missense variant |
C/G;T
|
snv
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs59653062
|
0.925 |
0.120 |
1 |
156136076 |
missense variant |
T/A
|
snv
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs60458016
|
0.827 |
0.120 |
1 |
156136036 |
stop gained |
G/A;T
|
snv
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs60934003
|
0.882 |
0.160 |
1 |
156137213 |
missense variant |
T/C
|
snv
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs61672878
|
0.776 |
0.200 |
1 |
156136094 |
missense variant |
G/A;T
|
snv
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |