rs1555625571
|
|
|
16 |
89934974 |
missense variant |
G/C
|
snv
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
10 |
2010 |
2016 |
rs1555625571
|
|
|
16 |
89934974 |
missense variant |
G/C
|
snv
|
|
|
Overgrowth
|
|
0.700 |
1.000 |
10 |
2010 |
2016 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Mobius Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases
|
0.020 |
1.000 |
2 |
2013 |
2018 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Kallmann Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.020 |
1.000 |
2 |
2013 |
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 |
rs2302898
|
|
|
16 |
89932386 |
intron variant |
G/A
|
snv
|
|
0.32
|
Hair Color
|
|
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 |
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 |
rs267607164
|
0.925 |
0.160 |
16 |
89935700 |
missense variant |
G/A;C
|
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 |
rs267607164
|
0.925 |
0.160 |
16 |
89935700 |
missense variant |
G/A;C
|
snv
|
|
|
Mixed sensory-motor polyneuropathy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Bell Palsy
|
Infections; Nervous System Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Mixed sensory-motor polyneuropathy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
External Ophthalmoplegia
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Facial paralysis
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Vocal Cord Paralysis
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Congenital Fibrosis of the Extraocular Muscles
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Vomiting
|
Pathological Conditions, Signs and Symptoms
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Familial (FPAH)
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Osteoporosis
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Klinefelter Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Hypogonadotropic hypogonadism
|
Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
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 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Syncope, Tussive
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
snv
|
|
|
Facial Paresis
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |