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 | 0.080 | 19 | 43552051 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||
|
19 | 43546079 | missense variant | G/T | snv | 3.0E-04 | 4.3E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
19 | 43574077 | intron variant | ATTTT/- | delins | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 19 | 43546884 | missense variant | C/G | snv | 3.2E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 19 | 43561236 | intron variant | C/T | snv | 0.38 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 19 | 43552170 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.080 | 19 | 43552170 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
19 | 43575449 | missense variant | T/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.120 | 19 | 43545922 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.882 | 0.120 | 19 | 43545922 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.882 | 0.040 | 19 | 43553481 | missense variant | C/T | snv | 6.4E-05 | 1.1E-04 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.040 | 19 | 43553481 | missense variant | C/T | snv | 6.4E-05 | 1.1E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.040 | 19 | 43553481 | missense variant | C/T | snv | 6.4E-05 | 1.1E-04 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.160 | 19 | 43575436 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.160 | 19 | 43575436 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.200 | 19 | 43552212 | missense variant | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.200 | 19 | 43552212 | missense variant | G/A | snv | 8.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 |