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 |
rs1805009
|
0.790 |
0.280 |
16 |
89920138 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
9.1E-03
|
|
melanoma
|
Neoplasms
|
0.070 |
0.857 |
7 |
2001 |
2018 |
rs1805009
|
0.790 |
0.280 |
16 |
89920138 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
9.1E-03
|
|
Cutaneous Melanoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.020 |
1.000 |
2 |
2000 |
2018 |
rs1805009
|
0.790 |
0.280 |
16 |
89920138 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
9.1E-03
|
|
Malignant neoplasm of skin
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.020 |
1.000 |
2 |
2002 |
2008 |
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 |
rs1805009
|
0.790 |
0.280 |
16 |
89920138 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
9.1E-03
|
|
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 |
rs1805009
|
0.790 |
0.280 |
16 |
89920138 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
9.1E-03
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs1805009
|
0.790 |
0.280 |
16 |
89920138 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
9.1E-03
|
|
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs1805009
|
0.790 |
0.280 |
16 |
89920138 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
9.1E-03
|
|
Skin Pigmentation
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1805009
|
0.790 |
0.280 |
16 |
89920138 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
9.1E-03
|
|
Congenital Mesoblastic Nephroma
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
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 |