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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 11852860 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
8 | 11847939 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 11848361 | non coding transcript exon variant | G/A | snv | 0.17 | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 8 | 11849665 | intron variant | A/C;G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
8 | 11844866 | 3 prime UTR variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 11844804 | 3 prime UTR variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2006 | 2008 | |||||||
|
0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2010 | 2014 | |||||||
|
0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2010 | 2014 | |||||||
|
0.882 | 0.120 | 8 | 11853351 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||||
|
0.851 | 0.160 | 8 | 11853378 | frameshift variant | AG/- | del | 1.6E-04 | 1.5E-04 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||||
|
1.000 | 0.080 | 8 | 11848075 | missense variant | G/C | snv | 7.0E-06 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 |
|
Neoplasms; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 |
|
Neoplasms; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 8 | 11849072 | synonymous variant | T/C;G | snv | 3.5E-02; 0.56 |
|
Neoplasms; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 8 | 11849072 | synonymous variant | T/C;G | snv | 3.5E-02; 0.56 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 8 | 11849072 | synonymous variant | T/C;G | snv | 3.5E-02; 0.56 |
|
Neoplasms; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 8 | 11849072 | synonymous variant | T/C;G | snv | 3.5E-02; 0.56 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 8 | 11849072 | synonymous variant | T/C;G | snv | 3.5E-02; 0.56 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 8 | 11849072 | synonymous variant | T/C;G | snv | 3.5E-02; 0.56 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 |