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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 3 | 184372478 | 3 prime UTR variant | C/G;T | snv | 4.0E-06; 0.56 |
|
0.800 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
3 | 184372454 | 3 prime UTR variant | C/T | snv | 6.4E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
3 | 184375252 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.080 | 3 | 184372478 | 3 prime UTR variant | C/G;T | snv | 4.0E-06; 0.56 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 3 | 184372478 | 3 prime UTR variant | C/G;T | snv | 4.0E-06; 0.56 |
|
Digestive System Diseases; Infections | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 184373456 | missense variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 3 | 184378252 | missense variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.080 | 3 | 184378311 | frameshift variant | AC/- | delins | 1.4E-05 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||||||
|
0.882 | 0.080 | 3 | 184378311 | frameshift variant | AC/- | delins | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
0.882 | 0.080 | 3 | 184378311 | frameshift variant | AC/- | delins | 1.4E-05 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.080 | 3 | 184372749 | missense variant | A/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 3 | 184372478 | 3 prime UTR variant | C/G;T | snv | 4.0E-06; 0.56 |
|
Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 3 | 184372642 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 184375917 | missense variant | G/A | snv | 8.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |