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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.040 | 12 | 68839357 | synonymous variant | T/C | snv | 1.8E-04 | 2.4E-04 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.882 | 0.040 | 12 | 68839357 | synonymous variant | T/C | snv | 1.8E-04 | 2.4E-04 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.882 | 0.040 | 12 | 68839357 | synonymous variant | T/C | snv | 1.8E-04 | 2.4E-04 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.851 | 0.200 | 12 | 68839435 | synonymous variant | A/G | snv | 5.5E-02 | 7.5E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.200 | 12 | 68839435 | synonymous variant | A/G | snv | 5.5E-02 | 7.5E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.200 | 12 | 68839435 | synonymous variant | A/G | snv | 5.5E-02 | 7.5E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.200 | 12 | 68839435 | synonymous variant | A/G | snv | 5.5E-02 | 7.5E-02 |
|
Neoplasms; Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.200 | 12 | 68839435 | synonymous variant | A/G | snv | 5.5E-02 | 7.5E-02 |
|
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.200 | 12 | 68839435 | synonymous variant | A/G | snv | 5.5E-02 | 7.5E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.733 | 15 | 2007 | 2017 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.733 | 15 | 2007 | 2017 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Neoplasms | 0.100 | 0.900 | 10 | 2006 | 2017 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Neoplasms | 0.050 | 1.000 | 5 | 2007 | 2019 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Neoplasms | 0.050 | 1.000 | 5 | 2009 | 2014 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.050 | 0.800 | 5 | 2008 | 2017 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Neoplasms | 0.040 | 1.000 | 4 | 2007 | 2019 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.030 | 1.000 | 3 | 2008 | 2014 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2010 | 2014 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 0.500 | 2 | 2007 | 2011 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.020 | 0.500 | 2 | 2011 | 2015 |