| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 187995930 | downstream gene variant | T/A | snv | 0.27 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||||
|
2 | 113221363 | intron variant | C/G | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
1.000 | 0.080 | 15 | 53615751 | missense variant | G/A | snv | 0.26 | 0.22 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
7 | 1234209 | intron variant | A/T | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 30747131 | intergenic variant | C/T | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 61161860 | intron variant | A/G | snv | 0.62 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 66748526 | regulatory region variant | C/G | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 169432844 | intron variant | T/C | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 127114919 | intron variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 155225189 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
6 | 50818295 | upstream gene variant | T/A | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.040 | 20 | 58894018 | intron variant | T/C | snv | 0.70 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
18 | 45607165 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.080 | 4 | 80261400 | intergenic variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
12 | 75877403 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
15 | 60897812 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
17 | 37687414 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
0.925 | 0.120 | 1 | 155208991 | missense variant | T/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
13 | 98786364 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 121231348 | intron variant | C/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.120 | 10 | 62025330 | 3 prime UTR variant | G/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |