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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 182838236 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 2 | 182842127 | intron variant | G/A | snv | 0.25 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 |
|
Musculoskeletal Diseases | 0.030 | 1.000 | 3 | 2006 | 2012 | ||||||
|
0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 |
|
Musculoskeletal Diseases | 0.030 | 0.667 | 3 | 2005 | 2009 | ||||||
|
0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||
|
0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 |
|
0.700 | 0 | ||||||||||
|
2 | 182864785 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 182859894 | intron variant | A/G | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 2 | 182834869 | missense variant | G/T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
Musculoskeletal Diseases | 0.050 | 0.800 | 5 | 2005 | 2009 | |||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2007 | 2019 | |||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
Musculoskeletal Diseases | 0.030 | 1.000 | 3 | 2004 | 2009 | |||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
0.020 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
0.800 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 |