rs58932704
|
0.776 |
0.200 |
1 |
156136413 |
missense variant |
C/T
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.810 |
1.000 |
3 |
2008 |
2017 |
rs57629361
|
0.827 |
0.280 |
1 |
156137207 |
missense variant |
C/A;G;T
|
snv
|
9.3E-06
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
1991 |
2014 |
rs121912496
|
0.882 |
0.120 |
1 |
156134910 |
missense variant |
C/G;T
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2008 |
2017 |
rs57207746
|
0.925 |
0.120 |
1 |
156134860 |
missense variant |
G/A
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2000 |
2017 |
rs57520892
|
0.776 |
0.200 |
1 |
156137204 |
missense variant |
G/A;C
|
snv
|
4.1E-05
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2012 |
2017 |
rs60934003
|
0.882 |
0.160 |
1 |
156137213 |
missense variant |
T/C
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2012 |
2017 |
rs28933091
|
0.882 |
0.160 |
1 |
156134474 |
missense variant |
C/A;G
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2001 |
2001 |
rs58034145
|
0.827 |
0.160 |
1 |
156134830 |
missense variant |
A/C
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2005 |
2005 |
rs59653062
|
0.925 |
0.120 |
1 |
156136076 |
missense variant |
T/A
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2006 |
2006 |
rs61672878
|
0.776 |
0.200 |
1 |
156136094 |
missense variant |
G/A;T
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2004 |
2004 |
rs59332535
|
0.827 |
0.160 |
1 |
156134911 |
missense variant |
G/A
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
13 |
2000 |
2014 |
rs267607545
|
0.882 |
0.200 |
1 |
156136121 |
missense variant |
G/A;C;T
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607571
|
0.882 |
0.160 |
1 |
156134458 |
missense variant |
G/A;T
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607614
|
1.000 |
0.120 |
1 |
156115016 |
missense variant |
A/G
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607629
|
1.000 |
0.120 |
1 |
156134507 |
missense variant |
C/G
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607630
|
1.000 |
0.120 |
1 |
156134967 |
missense variant |
T/C
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607633
|
1.000 |
0.120 |
1 |
156135259 |
missense variant |
T/C
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607634
|
0.925 |
0.120 |
1 |
156136045 |
missense variant |
G/A;C
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607637
|
0.925 |
0.120 |
1 |
156136402 |
missense variant |
G/A
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607638
|
1.000 |
0.120 |
1 |
156136417 |
missense variant |
T/C
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607639
|
0.882 |
0.200 |
1 |
156136939 |
missense variant |
T/C
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607641
|
1.000 |
0.120 |
1 |
156135188 |
missense variant |
T/C
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607642
|
1.000 |
0.120 |
1 |
156136921 |
missense variant |
G/T
|
snv
|
8.0E-06
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs267607643
|
1.000 |
0.120 |
1 |
156134455 |
missense variant |
GG/CC
|
mnv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs56984562
|
0.827 |
0.200 |
1 |
156137666 |
missense variant |
C/A;G;T
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |