Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 4 | 87976662 | intron variant | C/T | snv | 0.34 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.882 | 0.160 | 4 | 87976662 | intron variant | C/T | snv | 0.34 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.882 | 0.160 | 4 | 87976662 | intron variant | C/T | snv | 0.34 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 4 | 87982700 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.020 | 0.500 | 2 | 2002 | 2017 | ||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.160 | 4 | 87975645 | non coding transcript exon variant | T/G | snv | 0.17 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.050 | 1.000 | 5 | 2012 | 2017 | |||||||
|
1.000 | 0.120 | 4 | 87975555 | non coding transcript exon variant | -/G | delins |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | 0.500 | 2 | 2014 | 2015 | ||||||||
|
0.925 | 0.080 | 4 | 87977789 | non coding transcript exon variant | C/T | snv | 0.54 | 0.46 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 4 | 87977789 | non coding transcript exon variant | C/T | snv | 0.54 | 0.46 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.807 | 0.240 | 4 | 87975269 | non coding transcript exon variant | T/C | snv | 0.37 |
|
Musculoskeletal Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.240 | 4 | 87975269 | non coding transcript exon variant | T/C | snv | 0.37 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.240 | 4 | 87975269 | non coding transcript exon variant | T/C | snv | 0.37 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.240 | 4 | 87975269 | non coding transcript exon variant | T/C | snv | 0.37 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.240 | 4 | 87975269 | non coding transcript exon variant | T/C | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |