| 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 | 9946782 | intergenic variant | G/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 9946202 | intergenic variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 98729050 | intron variant | C/T | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 98567888 | intron variant | T/C | snv | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 9825848 | intergenic variant | A/G | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 9822890 | intergenic variant | T/C | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 98073424 | intergenic variant | T/C | snv | 1.6E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 9795635 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
10 | 97880706 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 97740700 | downstream gene variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 9743956 | intron variant | A/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 9742422 | intron variant | C/T | snv | 0.55 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
11 | 9740727 | non coding transcript exon variant | T/C | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
13 | 97336435 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 9732054 | intron variant | G/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 97049946 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
7 | 96832337 | regulatory region variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 96686103 | missense variant | A/G;T | snv | 0.41 |
|
0.700 | 1.000 | 3 | 2017 | 2018 | ||||||||||
|
6 | 96437529 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 96381261 | downstream gene variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 96323317 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 96297946 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
15 | 96092670 | intron variant | T/C | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 96092669 | intron variant | T/G | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 96009418 | upstream gene variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |