| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 9 | 97786731 | intron variant | A/G | snv | 0.72 |
|
0.820 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 107793911 | intron variant | A/C | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.925 | 0.120 | 6 | 31050630 | upstream gene variant | A/G | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.280 | 6 | 32695854 | intergenic variant | T/C | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 107823394 | intron variant | T/C | snv | 9.0E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 9 | 97784318 | intron variant | C/T | snv | 0.71 |
|
0.800 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 18 | 6567183 | intron variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.040 | 2 | 1403856 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
0.763 | 0.160 | 10 | 99523573 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1.000 | 0.040 | 6 | 165633546 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 77247778 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 181238244 | splice region variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 43837765 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 7 | 4745498 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.040 | 8 | 118939661 | intron variant | A/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 19 | 4837545 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 12 | 112027325 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 67327488 | intron variant | C/G;T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.280 | 6 | 408079 | 3 prime UTR variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 97779894 | intron variant | A/G | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 10 | 62297443 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |