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 | 6 | 52237139 | missense variant | G/A | snv | 4.4E-05 | 5.6E-05 |
|
0.800 | 0 | |||||||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.080 | 1.000 | 8 | 2006 | 2018 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2006 | 2019 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Digestive System Diseases | 0.030 | 0.667 | 3 | 2008 | 2013 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Digestive System Diseases | 0.020 | 0.500 | 2 | 2008 | 2017 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Infections; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.060 | 1.000 | 6 | 2010 | 2020 | ||||||
|
0.716 | 0.480 | 6 | 52237046 | missense variant | T/C | snv | 6.7E-02 | 6.1E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Eye Diseases; Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.882 | 0.160 | 6 | 52245936 | upstream gene variant | C/A;T | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.030 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.716 | 0.480 | 6 | 52237046 | missense variant | T/C | snv | 6.7E-02 | 6.1E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||||
|
0.925 | 0.120 | 6 | 52236960 | missense variant | C/T | snv | 3.0E-02 | 3.0E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||||
|
0.827 | 0.120 | 6 | 52240759 | intron variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.120 | 6 | 52240759 | intron variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Digestive System Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Eye Diseases; Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
Infections | 0.060 | 0.833 | 6 | 2013 | 2019 |