rs121434325
|
1.000 |
0.160 |
5 |
60904794 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.1E-06
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
3 |
2004 |
2010 |
rs281875221
|
1.000 |
|
5 |
60887479 |
missense variant |
C/A
|
snv
|
|
|
UV-SENSITIVE SYNDROME 2
|
|
0.800 |
1.000 |
1 |
2009 |
2009 |
rs121434326
|
1.000 |
0.160 |
5 |
60902446 |
missense variant |
C/G
|
snv
|
6.4E-05
|
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
3 |
2004 |
2010 |
rs121434324
|
1.000 |
0.160 |
5 |
60944972 |
stop gained |
C/A
|
snv
|
7.6E-05
|
4.9E-05
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
2 |
2004 |
2010 |
rs281875222
|
1.000 |
0.160 |
5 |
60904795 |
missense variant |
C/T
|
snv
|
|
7.1E-06
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2004 |
2010 |
rs281875223
|
1.000 |
0.160 |
5 |
60902477 |
missense variant |
C/A;G
|
snv
|
|
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2004 |
2010 |
rs281875224
|
1.000 |
0.160 |
5 |
60902454 |
missense variant |
A/G
|
snv
|
|
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2004 |
2010 |
rs281875225
|
1.000 |
0.160 |
5 |
60898322 |
missense variant |
T/C;G
|
snv
|
8.0E-06;
4.0E-06
|
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2004 |
2010 |
rs201464610
|
1.000 |
0.160 |
5 |
60899728 |
splice acceptor variant |
C/A;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2006 |
2016 |
rs774047625
|
1.000 |
0.160 |
5 |
60918264 |
splice donor variant |
C/G;T
|
snv
|
4.0E-06
|
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2006 |
2015 |
rs1131691783
|
1.000 |
0.160 |
5 |
60918367 |
frameshift variant |
TCT/CA
|
delins
|
|
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1404477615
|
1.000 |
0.160 |
5 |
60918350 |
frameshift variant |
CA/-
|
delins
|
|
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs143367518
|
1.000 |
0.160 |
5 |
60918364 |
stop gained |
G/C
|
snv
|
1.6E-05
|
3.5E-05
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1468231556
|
1.000 |
0.160 |
5 |
60902458 |
frameshift variant |
-/A
|
delins
|
|
1.4E-05
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1554073316
|
1.000 |
0.160 |
5 |
60902509 |
splice acceptor variant |
C/T
|
snv
|
|
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1554076309
|
1.000 |
|
5 |
60945264 |
stop gained |
G/A
|
snv
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs185572712
|
1.000 |
0.040 |
5 |
60877688 |
intron variant |
A/G
|
snv
|
|
2.1E-02
|
Schizophrenia
|
Mental Disorders
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs774542633
|
1.000 |
0.160 |
5 |
60918266 |
frameshift variant |
ATGTA/-
|
delins
|
4.0E-06
|
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1043679457
|
0.752 |
0.400 |
5 |
60927745 |
intron variant |
C/A;G;T
|
snv
|
|
|
Retinal pigment epithelial mottling
|
|
0.700 |
|
0 |
|
|
rs1043679457
|
0.752 |
0.400 |
5 |
60927745 |
intron variant |
C/A;G;T
|
snv
|
|
|
Pallor of optic disc
|
|
0.700 |
|
0 |
|
|
rs1043679457
|
0.752 |
0.400 |
5 |
60927745 |
intron variant |
C/A;G;T
|
snv
|
|
|
Anisocoria
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1043679457
|
0.752 |
0.400 |
5 |
60927745 |
intron variant |
C/A;G;T
|
snv
|
|
|
Pediatric failure to thrive
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|
rs1043679457
|
0.752 |
0.400 |
5 |
60927745 |
intron variant |
C/A;G;T
|
snv
|
|
|
Cockayne Syndrome, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1043679457
|
0.752 |
0.400 |
5 |
60927745 |
intron variant |
C/A;G;T
|
snv
|
|
|
Intention tremor
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1043679457
|
0.752 |
0.400 |
5 |
60927745 |
intron variant |
C/A;G;T
|
snv
|
|
|
Dilated ventricles (finding)
|
|
0.700 |
|
0 |
|
|