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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 48955847 | intron variant | A/G | snv | 0.67 | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
19 | 48955005 | non coding transcript exon variant | C/G;T | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 48955005 | non coding transcript exon variant | C/G;T | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 48961078 | missense variant | C/T | snv | 1.4E-04 | 9.8E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.080 | 19 | 48955313 | non coding transcript exon variant | T/C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 19 | 48961574 | missense variant | G/A;C | snv | 3.7E-05; 4.1E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 19 | 48954681 | upstream gene variant | A/G | snv | 0.89 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||||
|
1.000 | 0.120 | 19 | 48955724 | missense variant | G/A | snv | 1.4E-05 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 19 | 48954681 | upstream gene variant | A/G | snv | 0.89 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 19 | 48954681 | upstream gene variant | A/G | snv | 0.89 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 19 | 48954681 | upstream gene variant | A/G | snv | 0.89 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 19 | 48954681 | upstream gene variant | A/G | snv | 0.89 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 19 | 48955799 | missense variant | G/A | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 19 | 48955714 | frameshift variant | GGGGGGG/-;GGGGGG;GGGGGGGG | delins |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 19 | 48955714 | frameshift variant | GGGGGGG/-;GGGGGG;GGGGGGGG | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 |