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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
3 | 148905181 | intron variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
X | 134693838 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
8 | 41675996 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
3 | 157077679 | upstream gene variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
22 | 29072468 | upstream gene variant | C/T | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
7 | 44206672 | intron variant | C/T | snv | 5.9E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 130024690 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | |||||||
|
21 | 14966851 | missense variant | G/C | snv | 7.9E-02 | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
3 | 46899626 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
7 | 44192179 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1.000 | 0.080 | 6 | 20675561 | intron variant | C/A | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
20 | 10678234 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
1 | 212116634 | intergenic variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
10 | 114029616 | intergenic variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 161675081 | non coding transcript exon variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
5 | 57795956 | intergenic variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.925 | 0.080 | 3 | 157080986 | upstream gene variant | T/C | snv | 0.36 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
1.000 | 0.080 | 6 | 26185972 | downstream gene variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
3 | 123377973 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
16 | 19981674 | intergenic variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 40530479 | intergenic variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 31416745 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 159712765 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |