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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 24833715 | intron variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 24907673 | intron variant | A/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 24915171 | intron variant | A/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | |||||||
|
0.827 | 0.120 | 2 | 24874775 | intron variant | A/G | snv | 0.54 |
|
Digestive System Diseases | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||||
|
0.827 | 0.120 | 2 | 24874775 | intron variant | A/G | snv | 0.54 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.827 | 0.120 | 2 | 24874775 | intron variant | A/G | snv | 0.54 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
2 | 24908447 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||||
|
2 | 24908447 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||||
|
2 | 24908447 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||||
|
1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 |
|
Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.120 | 2 | 24874775 | intron variant | A/G | snv | 0.54 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 2 | 24874775 | intron variant | A/G | snv | 0.54 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 2 | 24874775 | intron variant | A/G | snv | 0.54 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 24906604 | intron variant | A/G | snv | 0.51 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 2 | 24824539 | splice region variant | A/G | snv | 0.55 | 0.48 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 24819753 | 3 prime UTR variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 24868853 | intron variant | AA/-;A;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 24820011 | inframe deletion | AAG/- | delins | 4.0E-06; 2.4E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||||
|
2 | 24839960 | frameshift variant | C/-;CC | delins |
|
0.700 | 0 | ||||||||||||||
|
2 | 24911142 | intron variant | C/A | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 24899971 | intron variant | C/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |