rs104894294
|
1.000 |
|
11 |
47447853 |
missense variant |
G/A
|
snv
|
2.0E-05
|
2.1E-05
|
Myopathy
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894299
|
0.827 |
0.120 |
11 |
47448079 |
missense variant |
G/T
|
snv
|
1.6E-03
|
1.5E-03
|
Myopathy
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894301
|
1.000 |
|
11 |
47441716 |
stop gained |
G/A;T
|
snv
|
1.6E-05;
4.1E-06
|
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.700 |
|
0 |
|
|
rs1479498379
|
0.925 |
0.080 |
11 |
47447973 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.700 |
|
0 |
|
|
rs1479498379
|
0.925 |
0.080 |
11 |
47447973 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Pena-Shokeir syndrome type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555142603
|
0.925 |
0.080 |
11 |
47441670 |
stop gained |
G/A
|
snv
|
|
|
Pena-Shokeir syndrome type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555142603
|
0.925 |
0.080 |
11 |
47441670 |
stop gained |
G/A
|
snv
|
|
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.700 |
|
0 |
|
|
rs45547231
|
1.000 |
|
11 |
47448165 |
intron variant |
G/A;T
|
snv
|
0.11;
4.1E-06
|
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.700 |
|
0 |
|
|
rs786200904
|
1.000 |
|
11 |
47442792 |
frameshift variant |
-/AACAG
|
delins
|
|
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.700 |
|
0 |
|
|
rs786205885
|
1.000 |
|
11 |
47438813 |
frameshift variant |
-/AG
|
delins
|
|
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.700 |
|
0 |
|
|
rs104894299
|
0.827 |
0.120 |
11 |
47448079 |
missense variant |
G/T
|
snv
|
1.6E-03
|
1.5E-03
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
1.000 |
19 |
2002 |
2014 |
rs104894299
|
0.827 |
0.120 |
11 |
47448079 |
missense variant |
G/T
|
snv
|
1.6E-03
|
1.5E-03
|
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
13 |
2002 |
2011 |
rs121909254
|
0.925 |
0.080 |
11 |
47448832 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
3.6E-05
|
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
1.000 |
10 |
2002 |
2009 |
rs104894293
|
1.000 |
|
11 |
47441675 |
missense variant |
A/G
|
snv
|
4.1E-05
|
5.6E-05
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
1.000 |
9 |
2002 |
2007 |
rs104894294
|
1.000 |
|
11 |
47447853 |
missense variant |
G/A
|
snv
|
2.0E-05
|
2.1E-05
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
1.000 |
9 |
2002 |
2007 |
rs104894299
|
0.827 |
0.120 |
11 |
47448079 |
missense variant |
G/T
|
snv
|
1.6E-03
|
1.5E-03
|
Pena-Shokeir syndrome type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
9 |
2002 |
2014 |
rs104894300
|
1.000 |
|
11 |
47448924 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
1.000 |
9 |
2002 |
2007 |
rs121909255
|
0.925 |
0.080 |
11 |
47447859 |
missense variant |
C/T
|
snv
|
2.4E-05
|
1.4E-05
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
1.000 |
9 |
2002 |
2007 |
rs104894299
|
0.827 |
0.120 |
11 |
47448079 |
missense variant |
G/T
|
snv
|
1.6E-03
|
1.5E-03
|
Myasthenic Syndromes, Congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.750 |
1.000 |
9 |
2003 |
2017 |
rs786200905
|
0.882 |
0.120 |
11 |
47449174 |
upstream gene variant |
T/C
|
snv
|
|
2.1E-05
|
Pena-Shokeir syndrome type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
2003 |
2012 |
rs786200905
|
0.882 |
0.120 |
11 |
47449174 |
upstream gene variant |
T/C
|
snv
|
|
2.1E-05
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.700 |
1.000 |
5 |
2003 |
2012 |
rs786200905
|
0.882 |
0.120 |
11 |
47449174 |
upstream gene variant |
T/C
|
snv
|
|
2.1E-05
|
Myasthenic Syndromes, Congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs886037842
|
1.000 |
0.080 |
11 |
47449163 |
upstream gene variant |
G/C
|
snv
|
|
|
Myasthenic Syndromes, Congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs121909254
|
0.925 |
0.080 |
11 |
47448832 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
3.6E-05
|
|
Pena-Shokeir syndrome type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2007 |
2009 |
rs12419342
|
1.000 |
0.040 |
11 |
47446993 |
intron variant |
C/T
|
snv
|
|
0.61
|
Tonometry
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |