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 | 64833108 | 3 prime UTR variant | A/T | snv | 0.52 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1 | 64833288 | 3 prime UTR variant | C/T | snv | 7.6E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 64833868 | 3 prime UTR variant | -/TTAA;TTAATTAA | delins |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 1 | 64835928 | intron variant | T/C;G | snv |
|
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.280 | 1 | 64837448 | intron variant | G/T | snv | 5.1E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.280 | 1 | 64837448 | intron variant | G/T | snv | 5.1E-02 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.360 | 1 | 64837655 | intron variant | A/G | snv | 0.37 |
|
Eye Diseases; Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.360 | 1 | 64837655 | intron variant | A/G | snv | 0.37 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.360 | 1 | 64837655 | intron variant | A/G | snv | 0.37 |
|
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.320 | 1 | 64837707 | intron variant | G/A | snv | 2.3E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.320 | 1 | 64837707 | intron variant | G/A | snv | 2.3E-02 |
|
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.200 | 1 | 64840499 | intron variant | C/T | snv | 0.51 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 1 | 64843717 | intron variant | C/T | snv | 0.36 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2009 | 2011 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 1 | 64846699 | missense variant | G/A | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 1 | 64846735 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 1 | 64846735 | missense variant | G/T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 |