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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 16 | 23622705 | intron variant | A/C;G | snv |
|
Mental Disorders | 0.810 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.730 | 1.000 | 10 | 2010 | 2016 | ||||||
|
0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.730 | 1.000 | 5 | 2010 | 2016 | ||||||
|
0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.720 | 1.000 | 5 | 2007 | 2013 | |||||||
|
0.882 | 0.080 | 16 | 23637886 | frameshift variant | ACAA/- | delins | 4.0E-05 | 3.5E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.720 | 1.000 | 3 | 2013 | 2019 | ||||||
|
0.882 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 4 | 2010 | 2018 | |||||||
|
0.925 | 0.080 | 16 | 23638074 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
0.882 | 0.200 | 16 | 23629897 | stop gained | G/A;T | snv | 2.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 3 | 2007 | 2019 | |||||||
|
0.882 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2010 | 2018 | |||||||
|
0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23641140 | synonymous variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 18 | 2007 | 2017 | ||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 15 | 2007 | 2016 | |||||||
|
0.882 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 14 | 2010 | 2017 | |||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 13 | 2007 | 2017 | |||||||
|
0.827 | 0.400 | 16 | 23635306 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 12 | 2010 | 2017 | ||||||
|
0.851 | 0.280 | 16 | 23635788 | frameshift variant | AG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 11 | 2007 | 2016 | ||||||||
|
0.925 | 0.080 | 16 | 23607958 | stop gained | G/A;C | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 9 | 2009 | 2017 | |||||||
|
1.000 | 0.080 | 16 | 23607911 | frameshift variant | AG/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 8 | 2006 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23629231 | synonymous variant | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 2010 | 2017 | |||||||
|
0.882 | 0.080 | 16 | 23637886 | frameshift variant | ACAA/- | delins | 4.0E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 2009 | 2017 | ||||||
|
0.925 | 0.160 | 16 | 23603658 | frameshift variant | C/- | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 2013 | 2017 | |||||||
|
1.000 | 0.080 | 16 | 23635787 | frameshift variant | -/A | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 2012 | 2017 | |||||||
|
1.000 | 0.080 | 16 | 23635787 | frameshift variant | -/A | delins | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 8 | 2012 | 2017 | |||||||
|
1.000 | 0.080 | 16 | 23603512 | frameshift variant | AG/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 8 | 2009 | 2016 |