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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 5075628 | intron variant | C/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 5075628 | intron variant | C/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 5050807 | missense variant | C/T | snv | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
9 | 5064193 | intron variant | T/C | snv | 0.25 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
9 | 5089770 | missense variant | G/A | snv | 1.7E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 9 | 5064922 | missense variant | G/A;C;T | snv | 1.7E-05; 1.7E-05; 4.2E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
9 | 5038597 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 5028921 | intron variant | C/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 5067832 | intron variant | T/C | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 5080657 | missense variant | G/A;C | snv | 1.3E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
9 | 5069837 | intron variant | G/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 9 | 5078117 | intron variant | T/C | snv | 0.23 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 9 | 5054778 | missense variant | G/A | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 9 | 5126715 | missense variant | A/G | snv | 2.0E-03 | 2.1E-03 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.040 | 9 | 5126768 | missense variant | A/G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 9 | 5081828 | missense variant | G/C | snv | 4.2E-04 | 5.4E-04 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.040 | 9 | 5081828 | missense variant | G/C | snv | 4.2E-04 | 5.4E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 9 | 4985879 | intron variant | A/G | snv | 0.21 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 9 | 5112288 | non coding transcript exon variant | C/T | snv | 0.51 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 9 | 5126343 | missense variant | G/A;C | snv | 4.4E-03 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 9 | 5126343 | missense variant | G/A;C | snv | 4.4E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 5022025 | missense variant | G/T | snv | 5.2E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 9 | 5055750 | stop gained | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 9 | 5066740 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.040 | 9 | 5084049 | intron variant | G/A;T | snv | 0.63 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |