| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.720 | 1.000 | 1 | 2015 | 2019 | |||||||
|
0.708 | 0.280 | 13 | 32394673 | intron variant | T/C | snv | 6.6E-03 | 6.0E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.708 | 0.280 | 6 | 29785031 | intergenic variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.708 | 0.280 | 13 | 32265853 | intron variant | G/A | snv | 1.3E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 14 | 33545815 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 151625198 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 9 | 133640119 | intron variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 12 | 49251457 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 8 | 143640250 | intron variant | T/C | snv | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 160908636 | intergenic variant | G/A | snv | 4.0E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 3 | 189625454 | intergenic variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 13 | 32601963 | intron variant | T/C | snv | 6.6E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 28515140 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 30914638 | 5 prime UTR variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 32231204 | intergenic variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 32373094 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 32936274 | non coding transcript exon variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 31208169 | downstream gene variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.708 | 0.280 | 6 | 31347004 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.320 | 6 | 30374976 | intergenic variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 28237041 | downstream gene variant | A/G | snv | 5.2E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |