| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 8 | 2010 | 2019 | |||||||
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.800 | 1.000 | 8 | 2012 | 2019 | |||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.800 | 1.000 | 8 | 2010 | 2019 | ||||||||
|
0.807 | 0.240 | 5 | 75360714 | 3 prime UTR variant | T/C;G | snv | 0.37 |
|
0.800 | 1.000 | 7 | 2010 | 2019 | ||||||||
|
0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 |
|
0.800 | 1.000 | 6 | 2012 | 2019 | ||||||||
|
0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 |
|
0.800 | 1.000 | 6 | 2010 | 2019 | ||||||||
|
0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 |
|
0.800 | 1.000 | 6 | 2010 | 2019 | ||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 6 | 2009 | 2018 | ||||||||
|
0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 |
|
0.800 | 1.000 | 6 | 2010 | 2019 | ||||||||
|
0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 |
|
0.800 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 6 | 2010 | 2019 | ||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.800 | 1.000 | 5 | 2010 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 5 | 2009 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | |||||||
|
1.000 | 0.080 | 16 | 72074194 | intron variant | G/A | snv | 0.16 |
|
0.800 | 1.000 | 5 | 2010 | 2018 | ||||||||
|
0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.827 | 0.160 | 5 | 156963286 | upstream gene variant | T/C | snv | 0.56 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
1 | 62583880 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 4 | 2013 | 2019 | |||||||||||
|
11 | 126374057 | intron variant | G/A | snv | 0.12 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 4 | 2009 | 2018 | |||||||||
|
6 | 160157828 | intron variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.800 | 1.000 | 4 | 2010 | 2018 |