| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.800 | 0.963 | 1 | 2003 | 2019 | ||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2008 | 2018 | ||||||||
|
0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 |
|
0.740 | 1.000 | 1 | 2016 | 2019 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.730 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 |
|
0.720 | 1.000 | 1 | 2009 | 2010 | ||||||||
|
0.763 | 0.160 | 10 | 112738717 | intron variant | G/A | snv | 0.20 |
|
0.720 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.776 | 0.120 | 13 | 23719720 | regulatory region variant | A/G | snv | 0.50 |
|
0.720 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.710 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.710 | 1.000 | 1 | 2015 | 2016 | ||||||||
|
0.827 | 0.080 | 22 | 29941597 | intron variant | T/C | snv | 0.78 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.080 | 19 | 40847202 | intron variant | T/C | snv | 0.52 |
|
0.710 | 1.000 | 1 | 2016 | 2017 | ||||||||
|
0.882 | 0.080 | 2 | 173118476 | intron variant | A/C;G;T | snv |
|
0.710 | 1.000 | 1 | 2017 | 2018 | |||||||||
|
0.851 | 0.160 | 15 | 43267033 | upstream gene variant | T/C | snv | 0.17 |
|
0.710 | 1.000 | 1 | 2009 | 2011 | ||||||||
|
0.742 | 0.240 | 15 | 78618839 | synonymous variant | T/C | snv | 0.35 | 0.37 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.200 | 15 | 78615690 | intron variant | A/G | snv | 0.29 |
|
0.710 | 1.000 | 1 | 2008 | 2011 | ||||||||
|
0.851 | 0.080 | 6 | 117465017 | intron variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 243199378 | intron variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 12 | 955272 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 10 | 19072094 | intron variant | C/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 12 | 49251457 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 6 | 31459618 | intron variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |