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 | 2 | 226796916 | missense variant | G/A;C | snv | 1.5E-05; 5.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||||
|
2 | 226795925 | synonymous variant | A/G | snv | 2.5E-03 | 2.3E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
2 | 226795973 | synonymous variant | C/T | snv | 7.1E-03 | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 226795973 | synonymous variant | C/T | snv | 7.1E-03 | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 226795973 | synonymous variant | C/T | snv | 7.1E-03 | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 2 | 226796570 | inframe deletion | ACC/- | delins | 8.0E-06 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.700 | 0 | |||||||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.700 | 0 | |||||||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.100 | 0.841 | 44 | 1994 | 2019 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.100 | 0.833 | 18 | 2001 | 2017 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.080 | 1.000 | 8 | 2005 | 2016 | |||||||
|
0.882 | 0.160 | 2 | 226797205 | missense variant | C/G | snv | 1.4E-02 | 1.3E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.060 | 0.833 | 6 | 1994 | 2011 | ||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.050 | 1.000 | 5 | 1999 | 2014 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.050 | 1.000 | 5 | 2001 | 2016 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Endocrine System Diseases | 0.050 | 1.000 | 5 | 1999 | 2014 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2007 | 2018 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Nutritional and Metabolic Diseases | 0.030 | 1.000 | 3 | 2009 | 2011 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2003 | 2004 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2007 | 2018 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2005 | 2011 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2005 | 2011 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2005 | 2011 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Respiratory Tract Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2006 | 2016 |