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 | 12 | 112927816 | intron variant | A/G | snv | 3.8E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
12 | 112923769 | intron variant | G/T | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 12 | 112927816 | intron variant | A/G | snv | 3.8E-03 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 12 | 112927816 | intron variant | A/G | snv | 3.8E-03 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 12 | 112927816 | intron variant | A/G | snv | 3.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
12 | 112927776 | intron variant | C/T | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 112921352 | intron variant | T/C | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.030 | 0.667 | 3 | 2006 | 2009 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Digestive System Diseases; Infections | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases | 0.020 | 1.000 | 2 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 12 | 112911065 | missense variant | G/A;C | snv |
|
Digestive System Diseases; Infections | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Infections | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Infections | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Digestive System Diseases; Neoplasms | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Infections | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Infections | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
Infections; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.040 | 12 | 112911065 | missense variant | G/A;C | snv | 0.57 |
|
Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.040 | 12 | 112911065 | missense variant | G/A;C | snv | 0.57 |
|
Infections | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.040 | 12 | 112911065 | missense variant | G/A;C | snv | 0.57 |
|
Infections | 0.010 | 1.000 | 1 | 2018 | 2018 |