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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 16 | 55484060 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.790 | 0.080 | 16 | 55504828 | intron variant | A/G | snv | 3.7E-02 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Eye Diseases | 0.020 | 0.500 | 2 | 2017 | 2019 | |||||||
|
0.851 | 0.120 | 16 | 55493201 | synonymous variant | G/A;C | snv | 0.39; 8.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.120 | 16 | 55477625 | intron variant | G/A | snv | 0.19 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 16 | 55479572 | synonymous variant | G/A | snv | 4.8E-05 | 4.9E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.080 | 16 | 55483076 | synonymous variant | G/A | snv | 1.2E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 55485700 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 16 | 55476547 | intron variant | T/G | snv | 0.55 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 16 | 55475122 | intron variant | G/A | snv | 0.20 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.200 | 16 | 55498391 | missense variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.080 | 16 | 55479556 | missense variant | A/G;T | snv | 4.1E-06 | 2.1E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.807 | 0.200 | 16 | 55498391 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.120 | 16 | 55493201 | synonymous variant | G/A;C | snv | 0.39; 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 16 | 55488667 | synonymous variant | C/T | snv | 4.0E-06 |
|
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
16 | 55485623 | synonymous variant | G/C | snv | 0.31 | 0.26 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
16 | 55505279 | intron variant | C/G | snv | 0.50 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 |