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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 120683279 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
3 | 158523978 | intron variant | A/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 118319448 | regulatory region variant | TATA/-;TA;TATATA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
12 | 28536581 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 27492144 | intron variant | G/A | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
17 | 46115224 | intron variant | T/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 184295785 | intron variant | A/C;G | snv | 4.7E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 6652254 | intergenic variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 68197593 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 79170941 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
12 | 85330318 | intron variant | A/G;T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 94458852 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 93790306 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 118903367 | intergenic variant | A/G | snv | 4.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 56626318 | regulatory region variant | G/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 6 | 126470949 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1 | 221461865 | intergenic variant | C/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 78155004 | intron variant | G/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 147022468 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
3 | 99087938 | intergenic variant | A/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 45608332 | upstream gene variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
17 | 45605039 | upstream gene variant | C/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 108955052 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 45604957 | upstream gene variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 17 | 46770468 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |