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 |
|
|
rs1805009
|
0.790 |
0.280 |
16 |
89920138 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
9.1E-03
|
|
SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
|
|
0.700 |
|
0 |
|
|
rs267607165
|
0.708 |
0.520 |
16 |
89935679 |
missense variant |
G/A;C
|
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 |
|
|
rs747480526
|
1.000 |
|
16 |
89934984 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.800 |
|
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 |
|
|
rs864321716
|
1.000 |
0.160 |
16 |
89935236 |
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 |
|
|
rs878853279
|
1.000 |
|
16 |
89935613 |
missense variant |
A/G
|
snv
|
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.700 |
|
0 |
|
|
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 |
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
|
|
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 |
rs369542041
|
1.000 |
|
16 |
89920123 |
missense variant |
T/C
|
snv
|
5.6E-05
|
3.5E-05
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
|
|
0.700 |
1.000 |
2 |
2007 |
2009 |
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 |
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 |