rs202160208
|
0.827 |
0.160 |
3 |
49722056 |
missense variant |
C/T
|
snv
|
2.9E-04
|
1.8E-04
|
Amblyopia
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397509426
|
0.882 |
0.080 |
3 |
49723632 |
missense variant |
G/A
|
snv
|
8.0E-05
|
7.0E-06
|
Amblyopia
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs142336618
|
0.827 |
0.120 |
3 |
49723648 |
missense variant |
C/G
|
snv
|
4.5E-06;
7.0E-04
|
5.3E-04
|
Congenital muscular dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs202160208
|
0.827 |
0.160 |
3 |
49722056 |
missense variant |
C/T
|
snv
|
2.9E-04
|
1.8E-04
|
Congenital muscular dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1559697515
|
|
|
3 |
49723016 |
missense variant |
T/C
|
snv
|
|
|
Creatine phosphokinase serum increased
|
|
0.700 |
|
0 |
|
|
rs202160208
|
0.827 |
0.160 |
3 |
49722056 |
missense variant |
C/T
|
snv
|
2.9E-04
|
1.8E-04
|
Delayed speech and language development
|
Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs397509426
|
0.882 |
0.080 |
3 |
49723632 |
missense variant |
G/A
|
snv
|
8.0E-05
|
7.0E-06
|
Delayed speech and language development
|
Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs202160208
|
0.827 |
0.160 |
3 |
49722056 |
missense variant |
C/T
|
snv
|
2.9E-04
|
1.8E-04
|
Dysmorphic facies
|
|
0.700 |
|
0 |
|
|
rs397509426
|
0.882 |
0.080 |
3 |
49723632 |
missense variant |
G/A
|
snv
|
8.0E-05
|
7.0E-06
|
Dysmorphic facies
|
|
0.700 |
|
0 |
|
|
rs202160208
|
0.827 |
0.160 |
3 |
49722056 |
missense variant |
C/T
|
snv
|
2.9E-04
|
1.8E-04
|
Esotropia
|
Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397509426
|
0.882 |
0.080 |
3 |
49723632 |
missense variant |
G/A
|
snv
|
8.0E-05
|
7.0E-06
|
Esotropia
|
Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397509425
|
0.882 |
|
3 |
49722604 |
missense variant |
G/A
|
snv
|
3.6E-05
|
1.4E-05
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
5 |
2009 |
2015 |
rs142336618
|
0.827 |
0.120 |
3 |
49723648 |
missense variant |
C/G
|
snv
|
4.5E-06;
7.0E-04
|
5.3E-04
|
Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2013 |
2017 |
rs142908436
|
0.851 |
0.120 |
3 |
49722057 |
missense variant |
G/A;T
|
snv
|
1.0E-04;
1.2E-05
|
|
Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2015 |
2017 |
rs202160208
|
0.827 |
0.160 |
3 |
49722056 |
missense variant |
C/T
|
snv
|
2.9E-04
|
1.8E-04
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
1.000 |
6 |
2013 |
2017 |
rs142336618
|
0.827 |
0.120 |
3 |
49723648 |
missense variant |
C/G
|
snv
|
4.5E-06;
7.0E-04
|
5.3E-04
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
1.000 |
5 |
2013 |
2015 |
rs199922550
|
0.882 |
|
3 |
49721847 |
missense variant |
C/T
|
snv
|
6.0E-05
|
4.9E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
1.000 |
3 |
2013 |
2016 |
rs397509422
|
0.851 |
0.080 |
3 |
49721835 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
7.6E-05
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.800 |
1.000 |
3 |
2013 |
2015 |
rs761714818
|
0.882 |
|
3 |
49722343 |
missense variant |
A/G
|
snv
|
6.4E-05
|
4.2E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
1.000 |
3 |
2014 |
2015 |
rs145564018
|
0.882 |
|
3 |
49722971 |
splice donor variant |
C/T
|
snv
|
|
1.4E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs142908436
|
0.851 |
0.120 |
3 |
49722057 |
missense variant |
G/A;T
|
snv
|
1.0E-04;
1.2E-05
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs771861177
|
0.882 |
|
3 |
49721765 |
missense variant |
C/T
|
snv
|
3.7E-05
|
1.4E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1553691918
|
0.882 |
|
3 |
49722698 |
frameshift variant |
GT/-
|
delins
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
|
0 |
|
|
rs1553691975
|
0.882 |
|
3 |
49723007 |
frameshift variant |
-/CT
|
delins
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
|
0 |
|
|
rs397509423
|
1.000 |
|
3 |
49723293 |
stop gained |
G/A
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
|
0 |
|
|