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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 53244268 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 52865500 | intron variant | A/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 53021171 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
18 | 53496236 | intron variant | C/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 18 | 53223855 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 18 | 52768791 | intron variant | G/A | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 18 | 53322064 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 18 | 52943172 | intron variant | A/G | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
18 | 52925064 | intron variant | C/T | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
18 | 53079272 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 53160281 | intron variant | C/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
18 | 52666026 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 52666026 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 53382204 | intron variant | G/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 18 | 53431552 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.120 | 18 | 53125996 | intron variant | G/A | snv | 5.3E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
18 | 52867330 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
18 | 53467923 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.120 | 18 | 52925310 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 18 | 53386061 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 18 | 53386097 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 18 | 53207746 | missense variant | G/A;C | snv |
|
0.700 | 0 |