| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 101594473 | intergenic variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 106725104 | non coding transcript exon variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 106986584 | regulatory region variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
13 | 110442142 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 111280427 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 111336380 | regulatory region variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.080 | 12 | 111449163 | 3 prime UTR variant | T/A | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
2 | 113221363 | intron variant | C/G | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
2 | 113235808 | non coding transcript exon variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.882 | 0.120 | 2 | 120548864 | upstream gene variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
12 | 12056269 | intron variant | G/A | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 12 | 120981253 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
12 | 121012362 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 121231348 | intron variant | C/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 121281519 | intron variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 121995544 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 121995837 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 122730326 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 1231063 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
7 | 1234209 | intron variant | A/T | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 7 | 1246608 | regulatory region variant | G/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
10 | 124975597 | intron variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 1253374 | intergenic variant | A/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 126476785 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |