| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 26233159 | non coding transcript exon variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
9 | 28415514 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
9 | 95648123 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
12 | 123935181 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 104916546 | intron variant | T/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 19402761 | intron variant | G/T | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.120 | 1 | 149934520 | missense variant | T/C | snv | 0.33 | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 72371807 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
18 | 60208994 | intergenic variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 45676926 | intron variant | C/T | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
7 | 75533848 | 3 prime UTR variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 25260101 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 8116712 | intergenic variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 131285034 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 66544868 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
22 | 20154990 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
12 | 123920171 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 28837347 | upstream gene variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 72406204 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 78212446 | intergenic variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
13 | 53528071 | intron variant | G/A;T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 16 | 19924067 | intergenic variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 3 | 84966628 | intron variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |