| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 2 | 47800130 | frameshift variant | TCAG/- | delins | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.800 | 10 | 1997 | 2004 | |||||||||
|
0.925 | 0.080 | 12 | 132643933 | frameshift variant | TA/- | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.090 | 0.889 | 9 | 2004 | 2014 | |||||||||
|
0.790 | 0.080 | 11 | 74634505 | intron variant | T/G | snv | 0.40 |
|
0.700 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.776 | 0.080 | 20 | 6718948 | regulatory region variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 3 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 12 | 117309785 | intron variant | T/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.790 | 0.080 | 12 | 6302870 | intergenic variant | T/G | snv | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.160 | 20 | 63677259 | intron variant | T/G | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 19 | 33029021 | intron variant | T/G | snv | 7.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 52227452 | intron variant | T/G | snv | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.240 | 10 | 8047173 | intron variant | T/G | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.080 | 19 | 33034013 | intron variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.320 | 4 | 153706503 | downstream gene variant | T/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 3 | 53054269 | intron variant | T/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 2 | 47803678 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.480 | 10 | 67883321 | upstream gene variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.790 | 0.080 | 5 | 40280100 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 1 | 226363128 | missense variant | T/C;G | snv | 1.2E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.776 | 0.080 | 9 | 98917470 | regulatory region variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 7 | 5992023 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |