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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 81050837 | intron variant | G/A | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
5 | 51259335 | intergenic variant | T/C | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
16 | 26440122 | intergenic variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.080 | 11 | 79730650 | intergenic variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
5 | 121024223 | intergenic variant | C/G | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
5 | 51233341 | intergenic variant | G/A | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
15 | 67858585 | intron variant | A/G;T | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
22 | 17237716 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
4 | 167601600 | intergenic variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1 | 4793628 | downstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
13 | 61728432 | regulatory region variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
8 | 73264813 | intergenic variant | T/C | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
22 | 36286661 | intron variant | G/A | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
13 | 48839332 | regulatory region variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.160 | 19 | 44892962 | intron variant | C/T | snv | 0.24 | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
7 | 23767021 | intron variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 42148801 | intron variant | C/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
14 | 39556042 | intron variant | C/T | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
4 | 71747319 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
17 | 13726414 | regulatory region variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
12 | 69662005 | intron variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 85495401 | intron variant | A/G | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |