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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 17 | 39725721 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv |
|
Neoplasms | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv |
|
Neoplasms | 0.710 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.710 | 1.000 | 2 | 2011 | 2013 | ||||||
|
0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv |
|
Neoplasms; Respiratory Tract Diseases | 0.710 | 1.000 | 2 | 2004 | 2015 | ||||||||
|
0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv |
|
Neoplasms | 0.710 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2008 | 2016 | ||||||||
|
1.000 | 17 | 39687906 | stop gained | C/A | snv | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 5 | 2007 | 2018 | ||||||||
|
1.000 | 17 | 39687906 | stop gained | C/A | snv | 2.1E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2018 | |||||||||
|
1.000 | 17 | 39687906 | stop gained | C/A | snv | 2.1E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2007 | 2018 | ||||||||
|
0.882 | 0.120 | 17 | 39725125 | missense variant | A/G | snv | 7.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 5 | 2004 | 2013 | |||||||
|
1.000 | 0.080 | 17 | 39724748 | inframe insertion | -/GGGCTCCCC | delins |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 5 | 2005 | 2012 | ||||||||
|
0.827 | 0.160 | 17 | 39724008 | missense variant | G/A;C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2006 | 2016 | ||||||||
|
0.807 | 0.120 | 17 | 39724747 | missense variant | G/A;C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2011 | 2016 | ||||||||
|
0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2006 | 2016 | |||||||
|
1.000 | 0.080 | 17 | 39724744 | protein altering variant | G/TTAT | delins |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 3 | 2005 | 2006 | ||||||||
|
1.000 | 0.080 | 17 | 39724749 | inframe insertion | -/GGCTCCCCA | delins |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 3 | 2004 | 2012 | ||||||||
|
1.000 | 0.080 | 17 | 39709752 | intron variant | C/T | snv | 0.64 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||||
|
0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2004 | 2007 | ||||||||
|
1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/CTCCGTGATGGC | delins |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 2 | 2004 | 2012 | ||||||||
|
1.000 | 0.080 | 17 | 39724744 | protein altering variant | -/TCT;TGT;TTT | ins |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 2 | 2005 | 2006 | ||||||||
|
1.000 | 0.080 | 17 | 39725363 | missense variant | C/G;T | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2006 | 2013 | |||||||
|
17 | 39724750 | inframe insertion | -/GCTCCCCAG | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 |