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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.830 | 1.000 | 3 | 2008 | 2010 | ||||||
|
0.925 | 0.160 | 19 | 46705224 | intron variant | T/C | snv | 0.15 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.040 | 19 | 46702450 | intron variant | A/G | snv | 0.16 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
19 | 46691629 | intron variant | G/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
19 | 46705125 | intron variant | G/T | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
19 | 46693389 | intron variant | C/T | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
19 | 46701184 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
19 | 46691998 | intron variant | G/A | snv | 2.5E-03 | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
19 | 46710054 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1.000 | 0.120 | 19 | 46715865 | intron variant | T/C | snv | 0.12 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 19 | 46705224 | intron variant | T/C | snv | 0.15 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.040 | 19 | 46702450 | intron variant | A/G | snv | 0.16 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
19 | 46689684 | synonymous variant | G/A;C | snv | 4.0E-05; 2.5E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 19 | 46674559 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.925 | 19 | 46674559 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 19 | 46674559 | missense variant | G/T | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 |