| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.280 | 3 | 9756456 | intron variant | C/G | snv | 0.28 | 0.24 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.160 | 8 | 31119144 | intron variant | T/C | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.776 | 0.240 | 8 | 31141764 | missense variant | G/A;T | snv | 8.0E-06; 0.45 | 0.46 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.280 | 3 | 9759396 | non coding transcript exon variant | G/A | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.120 | 8 | 31042501 | intron variant | G/A | snv | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.120 | 15 | 90811275 | synonymous variant | C/T | snv | 0.15 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.807 | 0.120 | 8 | 31043374 | intron variant | A/G | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.807 | 0.120 | 8 | 31075099 | intron variant | C/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.160 | 3 | 14145845 | 3 prime UTR variant | G/C | snv | 0.25 | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.240 | 16 | 27312083 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.280 | 21 | 43168647 | upstream gene variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 16 | 27310774 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.120 | 1 | 147909431 | downstream gene variant | A/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 1 | 17893333 | intergenic variant | G/A | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 1 | 147905591 | upstream gene variant | G/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |