rs1554076309
|
1.000 |
|
5 |
60945264 |
stop gained |
G/A
|
snv
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs281875221
|
1.000 |
|
5 |
60887479 |
missense variant |
C/A
|
snv
|
|
|
UV-SENSITIVE SYNDROME 2
|
|
0.800 |
1.000 |
1 |
2009 |
2009 |
rs1554076306
|
1.000 |
|
5 |
60945256 |
start lost |
A/T
|
snv
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
|
|
0.700 |
|
0 |
|
|
rs1554076324
|
1.000 |
|
5 |
60945358 |
frameshift variant |
A/-
|
del
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
|
|
0.700 |
|
0 |
|
|
rs199754807
|
1.000 |
|
5 |
60945369 |
stop gained |
C/G
|
snv
|
5.6E-05
|
2.8E-05
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
|
|
0.700 |
|
0 |
|
|
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 |
rs158572
|
0.851 |
0.120 |
5 |
60943616 |
intron variant |
G/A
|
snv
|
|
0.63
|
Stomach Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.030 |
1.000 |
3 |
2015 |
2018 |
rs158572
|
0.851 |
0.120 |
5 |
60943616 |
intron variant |
G/A
|
snv
|
|
0.63
|
Malignant neoplasm of stomach
|
Digestive System Diseases; Neoplasms
|
0.030 |
1.000 |
3 |
2015 |
2018 |
rs158572
|
0.851 |
0.120 |
5 |
60943616 |
intron variant |
G/A
|
snv
|
|
0.63
|
Gastritis, Atrophic
|
Digestive System Diseases
|
0.020 |
1.000 |
2 |
2015 |
2017 |
rs158572
|
0.851 |
0.120 |
5 |
60943616 |
intron variant |
G/A
|
snv
|
|
0.63
|
Infection caused by Helicobacter pylori
|
Infections
|
0.010 |
1.000 |
1 |
2018 |
2018 |
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 |
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 |
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 |
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 |
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 |
rs121434323
|
0.925 |
0.160 |
5 |
60890964 |
stop gained |
G/C;T
|
snv
|
4.0E-06
|
|
Cockayne Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
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 |