Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 15024208 | intergenic variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||
|
11 | 92989595 | downstream gene variant | G/A | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 113048313 | intron variant | T/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
9 | 22132699 | downstream gene variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 3 | 185789511 | intron variant | A/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
3 | 171017310 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 22611792 | upstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 168910638 | intron variant | T/C | snv | 5.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.120 | 12 | 3060327 | intergenic variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 11 | 123009573 | intergenic variant | G/A | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
2 | 44964941 | intron variant | G/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
2 | 172727935 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 7 | 15025987 | intergenic variant | A/T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 7 | 19177581 | regulatory region variant | G/A | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 7 | 14858657 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |