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 | 0.040 | 5 | 147824702 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2001 | 2003 | ||||||
|
0.925 | 0.040 | 5 | 147831537 | missense variant | A/C;G | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Stomatognathic Diseases | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Digestive System Diseases; Chemically-Induced Disorders | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 |