| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 175751872 | intergenic variant | A/G | snv | 4.6E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 5762619 | splice region variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 187379 | downstream gene variant | T/C | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 12497263 | intergenic variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
15 | 32635275 | intron variant | C/T | snv | 0.79 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 120941346 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
8 | 14672342 | intron variant | T/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 98101459 | downstream gene variant | T/C | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 20793574 | intergenic variant | C/T | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 134842306 | intron variant | T/C | snv | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 175919410 | downstream gene variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 8966146 | intergenic variant | G/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 74354444 | intron variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
3 | 118443776 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 241592265 | 3 prime UTR variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 61914626 | missense variant | G/A;C | snv | 0.57; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 97790277 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
12 | 114276461 | regulatory region variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 1 | 99058491 | intron variant | A/G | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 9 | 97794690 | intron variant | A/G | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
9 | 97799204 | intron variant | C/T | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
10 | 71362188 | synonymous variant | T/C;G | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 12396784 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 9 | 97775173 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |