| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 129601368 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
14 | 25034593 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 224888625 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 85923808 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 7 | 50273756 | downstream gene variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
17 | 74706839 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 53824615 | upstream gene variant | T/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 33080829 | missense variant | G/C | snv | 0.14 | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 185422035 | regulatory region variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 181459460 | intron variant | TT/-;T;TTT | delins | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 306884 | upstream gene variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 129559864 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
9 | 128016459 | intergenic variant | G/A | snv | 6.8E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 27521170 | intron variant | C/T | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 19 | 18287818 | upstream gene variant | G/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
10 | 97384397 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 10 | 99532633 | upstream gene variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
3 | 46323369 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 27068541 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 59850066 | upstream gene variant | TT/-;T;TTT;TTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 129592027 | intron variant | C/- | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 22343363 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 85902784 | 5 prime UTR variant | GGCTGCAGGT/-;GGCTGCAGGTGGCTGCAGGT;GGCTGCAGGTGGCTGCAGGTGGCTGCAGGT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 31273862 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 82654059 | intron variant | A/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |