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 | 0.040 | 14 | 103703253 | synonymous variant | G/A | snv |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
Neoplasms; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
Neoplasms; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
Neoplasms; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.080 | 14 | 103698904 | missense variant | G/C;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 14 | 103698904 | missense variant | G/C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
14 | 103699501 | missense variant | C/T | snv | 1.0E-04; 4.0E-06 | 3.5E-05 |
|
Neoplasms | 0.020 | < 0.001 | 2 | 2003 | 2006 | ||||||||
|
14 | 103699501 | missense variant | C/T | snv | 1.0E-04; 4.0E-06 | 3.5E-05 |
|
Neoplasms | 0.020 | < 0.001 | 2 | 2003 | 2006 | ||||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.060 | 0.667 | 6 | 2011 | 2017 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.060 | 0.667 | 6 | 2011 | 2017 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
Neoplasms | 0.020 | 0.500 | 2 | 2015 | 2016 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
Neoplasms | 0.020 | 0.500 | 2 | 2015 | 2016 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 |