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 | 0.240 | 1 | 209697571 | intron variant | A/T | snv | 0.70 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 1 | 209702906 | intron variant | C/A | snv | 9.3E-02 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.120 | 1 | 209707123 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 1 | 209707123 | missense variant | T/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 1 | 209707123 | missense variant | T/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 1 | 209708028 | intron variant | G/T | snv | 0.17 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.120 | 1 | 209732389 | intron variant | G/C | snv | 0.21 | 0.21 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.827 | 0.280 | 1 | 209706914 | intron variant | T/G | snv | 0.21 | 0.20 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.882 | 0.160 | 1 | 209701909 | intron variant | A/G | snv | 0.95 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.120 | 1 | 209732389 | intron variant | G/C | snv | 0.21 | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.827 | 0.280 | 1 | 209706914 | intron variant | T/G | snv | 0.21 | 0.20 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1.000 | 1 | 209707020 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 1 | 209706914 | intron variant | T/G | snv | 0.21 | 0.20 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||||
|
0.925 | 0.080 | 1 | 209721316 | intron variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.160 | 1 | 209701909 | intron variant | A/G | snv | 0.95 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 1 | 209706871 | intron variant | -/A | delins |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 1 | 209711973 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||||
|
1.000 | 1 | 209709555 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||||
|
0.925 | 0.080 | 1 | 209687323 | intron variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 1 | 209687323 | intron variant | T/A;C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 1 | 209701909 | intron variant | A/G | snv | 0.95 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 1 | 209708028 | intron variant | G/T | snv | 0.17 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.120 | 1 | 209732389 | intron variant | G/C | snv | 0.21 | 0.21 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.851 | 0.120 | 1 | 209732389 | intron variant | G/C | snv | 0.21 | 0.21 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.280 | 1 | 209706914 | intron variant | T/G | snv | 0.21 | 0.20 |
|
Nutritional and Metabolic Diseases | 0.040 | 1.000 | 4 | 2011 | 2017 |