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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 19 | 10274864 | missense variant | A/G;T | snv | 4.0E-06; 2.8E-02 |
|
0.700 | 0 | |||||||||||
|
19 | 10281703 | intron variant | -/C | delins | 7.6E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 10269461 | intron variant | G/A | snv | 3.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 10269461 | intron variant | G/A | snv | 3.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 10269461 | intron variant | G/A | snv | 3.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 10269461 | intron variant | G/A | snv | 3.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 10269461 | intron variant | G/A | snv | 3.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 10277786 | intron variant | G/A | snv | 2.1E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 10278833 | intron variant | C/T | snv | 6.8E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 10278833 | intron variant | C/T | snv | 6.8E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 10278833 | intron variant | C/T | snv | 6.8E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 10278833 | intron variant | C/T | snv | 6.8E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 10286167 | 3 prime UTR variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 10281711 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
19 | 10286554 | 3 prime UTR variant | C/T | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 10284797 | missense variant | G/A | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 |