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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2002 | 2006 | |||||||
|
1.000 | 0.120 | 5 | 96937594 | non coding transcript exon variant | C/T | snv | 0.41 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.040 | 5 | 96824289 | intron variant | A/C | snv | 0.90 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 5 | 96908845 | intron variant | C/T | snv | 0.62 |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 5 | 96790082 | intron variant | G/T | snv | 0.16 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 5 | 96790494 | intron variant | A/G | snv | 0.62 | 0.63 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.040 | 5 | 96761124 | 3 prime UTR variant | A/G | snv | 0.35 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.040 | 5 | 96783569 | intron variant | A/C;G | snv |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.040 | 5 | 96812030 | upstream gene variant | A/G | snv | 0.23 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 5 | 96909646 | missense variant | T/C | snv | 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.240 | 5 | 96783148 | missense variant | G/C | snv | 0.69 | 0.71 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.040 | 5 | 96765321 | missense variant | T/A;C | snv | 7.1E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
5 | 96765222 | splice acceptor variant | A/G;T | snv | 8.1E-06 |
|
Pathological Conditions, Signs and Symptoms; Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
5 | 96762316 | missense variant | G/A | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.240 | 5 | 96783162 | missense variant | C/G;T | snv | 2.8E-05; 0.15 |
|
Musculoskeletal Diseases | 0.040 | 1.000 | 4 | 2011 | 2015 | |||||||
|
0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 |
|
Musculoskeletal Diseases | 0.030 | 1.000 | 3 | 2013 | 2015 | |||||||
|
0.882 | 0.240 | 5 | 96786506 | missense variant | C/T | snv | 0.15 | 0.16 |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||||
|
0.882 | 0.240 | 5 | 96786506 | missense variant | C/T | snv | 0.15 | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||||
|
0.882 | 0.240 | 5 | 96783162 | missense variant | C/G;T | snv | 2.8E-05; 0.15 |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 2 | 2010 | 2015 |