rs878853256
|
1.000 |
|
16 |
89935418 |
missense variant |
A/G
|
snv
|
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs878853279
|
1.000 |
|
16 |
89935613 |
missense variant |
A/G
|
snv
|
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.700 |
|
0 |
|
|
rs143395134
|
1.000 |
0.160 |
16 |
89920152 |
stop gained |
C/G;T
|
snv
|
8.0E-06;
8.0E-06;
8.8E-05
|
1.4E-04
|
Oculocutaneous albinism type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1555625363
|
0.925 |
0.080 |
16 |
89932649 |
missense variant |
C/T
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1555625363
|
0.925 |
0.080 |
16 |
89932649 |
missense variant |
C/T
|
snv
|
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs267607162
|
1.000 |
0.160 |
16 |
89935235 |
missense variant |
C/T
|
snv
|
|
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs864321717
|
1.000 |
0.160 |
16 |
89935589 |
missense variant |
C/T
|
snv
|
|
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs878853258
|
1.000 |
|
16 |
89935356 |
missense variant |
C/T
|
snv
|
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs886041459
|
0.925 |
0.080 |
16 |
89935140 |
missense variant |
C/T
|
snv
|
|
|
Global developmental delay
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs886041459
|
0.925 |
0.080 |
16 |
89935140 |
missense variant |
C/T
|
snv
|
|
|
Macular dystrophy, corneal type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs886041459
|
0.925 |
0.080 |
16 |
89935140 |
missense variant |
C/T
|
snv
|
|
|
Developmental delay (disorder)
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs747480526
|
1.000 |
|
16 |
89934984 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.800 |
|
0 |
|
|
rs386794162
|
0.925 |
0.160 |
16 |
89935711 |
missense variant |
CG/GA
|
mnv
|
|
|
Polymicrogyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs386794162
|
0.925 |
0.160 |
16 |
89935711 |
missense variant |
CG/GA
|
mnv
|
|
|
Congenital Fibrosis of the Extraocular Muscles
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs2302898
|
|
|
16 |
89932386 |
intron variant |
G/A
|
snv
|
|
0.32
|
Hair Color
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs267607163
|
1.000 |
0.160 |
16 |
89935355 |
missense variant |
G/A
|
snv
|
|
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs4586434
|
|
|
16 |
89928508 |
intron variant |
G/A
|
snv
|
|
0.34
|
Hair Color
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs587784505
|
0.882 |
0.160 |
16 |
89934743 |
missense variant |
G/A
|
snv
|
|
|
Macular dystrophy, corneal type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs878853257
|
1.000 |
|
16 |
89935064 |
missense variant |
G/A
|
snv
|
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs1057518686
|
1.000 |
|
16 |
89935433 |
missense variant |
G/A
|
snv
|
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.700 |
|
0 |
|
|
rs1057521924
|
1.000 |
|
16 |
89935313 |
missense variant |
G/A
|
snv
|
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.700 |
|
0 |
|
|
rs587784505
|
0.882 |
0.160 |
16 |
89934743 |
missense variant |
G/A
|
snv
|
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.700 |
|
0 |
|
|
rs587784505
|
0.882 |
0.160 |
16 |
89934743 |
missense variant |
G/A
|
snv
|
|
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs864321714
|
1.000 |
0.160 |
16 |
89933486 |
missense variant |
G/A
|
snv
|
|
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs864321715
|
1.000 |
0.160 |
16 |
89933512 |
missense variant |
G/A
|
snv
|
|
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|