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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.030 | 1.000 | 3 | 2013 | 2014 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.030 | 0.667 | 3 | 2006 | 2018 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2007 | 2015 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2007 | 2015 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2016 | 2019 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms | 0.030 | 0.333 | 3 | 2013 | 2014 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2016 | 2019 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2007 | 2012 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.020 | 0.500 | 2 | 2009 | 2016 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.020 | 1.000 | 2 | 2010 | 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 | |||||||
|
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 | |||||||
|
0.790 | 0.120 | 19 | 43543621 | missense variant | G/A;C | snv | 4.0E-06; 1.2E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.120 | 19 | 43543621 | missense variant | G/A;C | snv | 4.0E-06; 1.2E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |