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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 117712651 | missense variant | A/G | snv | 6.5E-04 | 4.3E-04 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
9 | 117704494 | missense variant | G/A;T | snv | 2.1E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
9 | 117713210 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
9 | 117713210 | missense variant | A/C;G | snv | 4.0E-06 |
|
Infections | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 9 | 117712537 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
9 | 117713547 | synonymous variant | C/T | snv | 1.2E-05 |
|
Infections | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 9 | 117707554 | intron variant | A/G | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 9 | 117707554 | intron variant | A/G | snv | 2.3E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 9 | 117709933 | intron variant | A/C;G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 117713001 | synonymous variant | A/G | snv | 2.4E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 9 | 117712443 | synonymous variant | T/C | snv | 1.2E-02 | 4.7E-02 |
|
Infections | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.882 | 0.040 | 9 | 117721385 | 3 prime UTR variant | A/G | snv | 0.40 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.040 | 9 | 117721385 | 3 prime UTR variant | A/G | snv | 0.40 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 9 | 117721385 | 3 prime UTR variant | A/G | snv | 0.40 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 9 | 117713902 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
Infections | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.040 | 9 | 117721731 | 3 prime UTR variant | G/A | snv | 0.73 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 9 | 117713974 | stop gained | C/G;T | snv | 4.0E-06; 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 9 | 117717732 | 3 prime UTR variant | G/A | snv | 5.1E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 9 | 117717732 | 3 prime UTR variant | G/A | snv | 5.1E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.080 | 9 | 117717932 | 3 prime UTR variant | C/A | snv | 0.14 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 9 | 117717932 | 3 prime UTR variant | C/A | snv | 0.14 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 9 | 117717932 | 3 prime UTR variant | C/A | snv | 0.14 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 9 | 117704565 | missense variant | G/A;C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 9 | 117712993 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 |
|
Infections; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.080 | 9 | 117712993 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 |
|
Infections | 0.010 | 1.000 | 1 | 2005 | 2005 |