| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 19 | 2008 | 2019 | |||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 3 | 2007 | 2018 | ||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 |
|
0.800 | 1.000 | 6 | 2012 | 2019 | ||||||||
|
0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.800 | 1.000 | 20 | 2009 | 2019 | ||||||||
|
0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | |||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.800 | 1.000 | 4 | 2007 | 2019 | |||||||
|
0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 |
|
0.800 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 2 | 2007 | 2019 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 9 | 2007 | 2019 | ||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2008 | 2018 | ||||||||
|
0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 |
|
0.800 | 1.000 | 8 | 2012 | 2019 | |||||||
|
0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.320 | 11 | 61842278 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 |
|
0.800 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |