|
rs193919336
|
0.882 |
0.160 |
1 |
46193873 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
1.6E-05
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2001 |
2010 |
|
rs193919335
|
0.925 |
0.160 |
1 |
46190473 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2001 |
2008 |
|
rs267606960
|
0.827 |
0.160 |
1 |
46192168 |
missense variant |
C/T
|
snv
|
2.4E-05
|
4.2E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
|
0.800 |
1.000 |
8 |
2004 |
2014 |
|
rs28940869
|
0.827 |
0.160 |
1 |
46192397 |
missense variant |
G/A
|
snv
|
|
3.5E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2001 |
2008 |
|
rs28942068
|
1.000 |
0.120 |
1 |
46192159 |
missense variant |
G/C
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2001 |
2008 |
|
rs267606962
|
0.882 |
0.120 |
1 |
46189539 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
1.6E-05
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
|
0.800 |
1.000 |
7 |
2006 |
2014 |
|
rs200863680
|
1.000 |
|
1 |
46194293 |
missense variant |
A/C
|
snv
|
1.2E-05
|
2.1E-05
|
RETINITIS PIGMENTOSA 76
|
|
0.800 |
1.000 |
2 |
2016 |
2016 |
|
rs886037947
|
1.000 |
|
1 |
46195879 |
missense variant |
C/T
|
snv
|
|
|
RETINITIS PIGMENTOSA 76
|
|
0.800 |
1.000 |
2 |
2016 |
2016 |
|
rs886037948
|
1.000 |
|
1 |
46192132 |
missense variant |
C/G;T
|
snv
|
|
|
RETINITIS PIGMENTOSA 76
|
|
0.800 |
1.000 |
2 |
2016 |
2016 |
|
rs886037949
|
1.000 |
|
1 |
46196073 |
missense variant |
A/C
|
snv
|
|
|
RETINITIS PIGMENTOSA 76
|
|
0.800 |
1.000 |
2 |
2016 |
2016 |
|
rs267606962
|
0.882 |
0.120 |
1 |
46189539 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
1.6E-05
|
|
Muscle eye brain disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.710 |
1.000 |
9 |
2003 |
2014 |
|
rs193919336
|
0.882 |
0.160 |
1 |
46193873 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
1.6E-05
|
|
Muscle eye brain disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
2004 |
2016 |
|
rs267606960
|
0.827 |
0.160 |
1 |
46192168 |
missense variant |
C/T
|
snv
|
2.4E-05
|
4.2E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834010
|
0.925 |
0.160 |
1 |
46194359 |
missense variant |
C/G;T
|
snv
|
4.0E-05
|
4.2E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834011
|
0.925 |
0.160 |
1 |
46192528 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834030
|
0.925 |
0.160 |
1 |
46195819 |
missense variant |
T/C;G
|
snv
|
4.5E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834032
|
0.925 |
0.160 |
1 |
46194902 |
missense variant |
G/C
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834036
|
0.925 |
0.160 |
1 |
46194637 |
missense variant |
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834037
|
0.925 |
0.160 |
1 |
46194347 |
missense variant |
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs762972459
|
1.000 |
0.120 |
1 |
46193315 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2001 |
2008 |
|
rs267606960
|
0.827 |
0.160 |
1 |
46192168 |
missense variant |
C/T
|
snv
|
2.4E-05
|
4.2E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
|
|
0.700 |
1.000 |
6 |
2004 |
2014 |
|
rs573518562
|
1.000 |
|
1 |
46192147 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
6 |
2007 |
2016 |
|
rs190057175
|
0.851 |
0.120 |
1 |
46194860 |
synonymous variant |
G/A
|
snv
|
4.0E-05
|
2.1E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
|
|
0.700 |
1.000 |
5 |
2007 |
2017 |
|
rs190057175
|
0.851 |
0.120 |
1 |
46194860 |
synonymous variant |
G/A
|
snv
|
4.0E-05
|
2.1E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
|
0.700 |
1.000 |
5 |
2007 |
2017 |
|
rs267606960
|
0.827 |
0.160 |
1 |
46192168 |
missense variant |
C/T
|
snv
|
2.4E-05
|
4.2E-05
|
Muscle eye brain disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2004 |
2012 |