rs6609533
|
0.790 |
0.200 |
X |
47585887 |
3 prime UTR variant |
A/G;T
|
snv
|
0.46
|
|
Malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs6609533
|
0.790 |
0.200 |
X |
47585887 |
3 prime UTR variant |
A/G;T
|
snv
|
0.46
|
|
Chronic Obstructive Airway Disease
|
Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs397514679
|
0.790 |
0.200 |
X |
47574321 |
stop gained |
G/A
|
snv
|
|
|
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|
rs200533370
|
0.882 |
0.160 |
X |
47574285 |
missense variant |
T/C
|
snv
|
1.1E-03
|
1.4E-02
|
Epilepsy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs200533370
|
0.882 |
0.160 |
X |
47574285 |
missense variant |
T/C
|
snv
|
1.1E-03
|
1.4E-02
|
Autistic Disorder
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs200533370
|
0.882 |
0.160 |
X |
47574285 |
missense variant |
T/C
|
snv
|
1.1E-03
|
1.4E-02
|
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|
rs397514680
|
0.925 |
0.160 |
X |
47574336 |
missense variant |
C/G;T
|
snv
|
|
|
Autistic Disorder
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs397514680
|
0.925 |
0.160 |
X |
47574336 |
missense variant |
C/G;T
|
snv
|
|
|
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|
rs1024446168
|
1.000 |
0.040 |
X |
47583421 |
synonymous variant |
C/A
|
snv
|
1.7E-05
|
|
Ankylosing spondylitis
|
Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1142636
|
1.000 |
0.040 |
X |
47606962 |
missense variant |
A/C;G
|
snv
|
0.37
|
|
Schizophrenia
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs5906435
|
1.000 |
0.040 |
X |
47589011 |
intron variant |
C/G;T
|
snv
|
|
|
Chronic Periodontitis
|
Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs6520278
|
1.000 |
0.120 |
X |
47588525 |
intron variant |
C/T
|
snv
|
|
0.35
|
Rheumatoid Arthritis
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs762952014
|
1.000 |
0.080 |
X |
47576535 |
missense variant |
G/A
|
snv
|
5.4E-06
|
|
Rett Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs137852560
|
1.000 |
0.160 |
X |
47576222 |
stop gained |
C/T
|
snv
|
|
|
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|
rs1556857481
|
1.000 |
0.160 |
X |
47574544 |
frameshift variant |
-/G
|
delins
|
|
|
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|
rs1556860663
|
1.000 |
0.160 |
X |
47605381 |
splice acceptor variant |
T/A
|
snv
|
|
|
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|
rs41298474
|
1.000 |
0.160 |
X |
47575136 |
missense variant |
G/A
|
snv
|
1.2E-03
|
3.8E-04
|
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|