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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.200 | 9 | 122371228 | missense variant | C/T | snv | 5.9E-02 | 8.5E-02 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||
|
1.000 | 0.080 | 9 | 122381694 | missense variant | C/A | snv | 1.8E-02 | 1.8E-02 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||
|
0.776 | 0.200 | 9 | 122371228 | missense variant | C/T | snv | 5.9E-02 | 8.5E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.776 | 0.200 | 9 | 122371228 | missense variant | C/T | snv | 5.9E-02 | 8.5E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
9 | 122375416 | 5 prime UTR variant | A/T | snv | 0.14 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 9 | 122371825 | missense variant | C/T | snv | 7.8E-06 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 9 | 122378558 | missense variant | C/A;T | snv | 4.0E-06; 6.0E-05 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
9 | 122392516 | missense variant | C/T | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 9 | 122374605 | intron variant | A/G | snv | 0.79 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 9 | 122390332 | synonymous variant | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 9 | 122378535 | missense variant | C/T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 9 | 122381513 | synonymous variant | C/A | snv | 0.16 | 0.28 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.080 | 9 | 122381694 | missense variant | C/A | snv | 1.8E-02 | 1.8E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.080 | 9 | 122383529 | stop gained | C/A | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.776 | 0.200 | 9 | 122371228 | missense variant | C/T | snv | 5.9E-02 | 8.5E-02 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||
|
0.776 | 0.200 | 9 | 122371228 | missense variant | C/T | snv | 5.9E-02 | 8.5E-02 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||
|
0.776 | 0.200 | 9 | 122371228 | missense variant | C/T | snv | 5.9E-02 | 8.5E-02 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||
|
9 | 122386588 | synonymous variant | C/T | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
9 | 122383715 | synonymous variant | C/G;T | snv | 4.0E-06; 2.8E-03 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 9 | 122369409 | upstream gene variant | C/T | snv | 0.69 |
|
Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 9 | 122370243 | upstream gene variant | A/G | snv | 8.0E-02 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 9 | 122369409 | upstream gene variant | C/T | snv | 0.69 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
1.000 | 0.080 | 9 | 122377927 | splice acceptor variant | G/A | snv | 4.6E-02 | 9.5E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||||
|
1.000 | 0.080 | 9 | 122390289 | missense variant | A/G | snv | 7.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 9 | 122392240 | missense variant | C/T | snv | 1.9E-04 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 |