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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins |
|
Digestive System Diseases; Neoplasms | 0.020 | 0.500 | 2 | 2005 | 2009 | ||||||||
|
0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins |
|
0.020 | 0.500 | 2 | 2005 | 2009 | |||||||||
|
0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins |
|
Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins |
|
Mental Disorders | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 9757233 | missense variant | A/C | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.120 | 3 | 9753859 | intron variant | A/G | snv | 0.28 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||||
|
0.925 | 0.200 | 3 | 9757095 | missense variant | A/G | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.200 | 3 | 9757095 | missense variant | A/G | 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 | 2006 | 2006 | |||||||
|
0.925 | 0.120 | 3 | 9756551 | synonymous variant | A/G | snv | 8.0E-06 | 1.4E-05 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.120 | 3 | 9756551 | synonymous variant | A/G | snv | 8.0E-06 | 1.4E-05 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.080 | 3 | 9756770 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 3 | 9756770 | missense variant | A/G | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 3 | 9751856 | missense variant | A/G | snv | 4.0E-06 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 3 | 9751856 | missense variant | A/G | snv | 4.0E-06 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 3 | 9750264 | 5 prime UTR variant | A/G | snv | 1.2E-03 | 4.5E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.080 | 3 | 9757429 | 3 prime UTR variant | A/G | snv | 0.22 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 3 | 9757429 | 3 prime UTR variant | A/G | snv | 0.22 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 3 | 9751142 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.120 | 3 | 9751076 | missense variant | C/A | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 3 | 9751076 | missense variant | C/A | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 3 | 9765977 | missense variant | C/A | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 3 | 9765977 | missense variant | C/A | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 3 | 9765977 | missense variant | C/A | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 3 | 9765977 | missense variant | C/A | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 |