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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 48748894 | 3 prime UTR variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 41785763 | intron variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 18 | 55729968 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
5 | 65000644 | intron variant | G/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 148207444 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 76488642 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 5 | 53975590 | intron variant | G/A | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
3 | 46853886 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 51084986 | intron variant | T/A | snv | 6.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 76133928 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 207024356 | intergenic variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 148211605 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 2808621 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
10 | 16963744 | intron variant | G/A | snv | 1.7E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 60708054 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 27375230 | intron variant | T/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 10 | 16890385 | missense variant | G/A;T | snv | 1.3E-02; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.882 | 0.160 | 7 | 17244953 | intron variant | T/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
14 | 68835682 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 189848068 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
4 | 55605384 | intron variant | A/G | snv | 0.36 | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
15 | 41514460 | upstream gene variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 228266570 | intergenic variant | T/C | snv | 1.5E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 81451999 | missense variant | G/A;C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 227011971 | intron variant | G/A | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |