| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 218439407 | intron variant | G/A | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116851110 | intron variant | C/T | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116851325 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
5 | 75502331 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
8 | 19970337 | downstream gene variant | C/A | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||||
|
9 | 16597467 | intron variant | G/A | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 19 | 44903416 | 3 prime UTR variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
9 | 134415237 | intron variant | G/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 134407131 | intron variant | C/T | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 61717464 | intron variant | A/G | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 142672656 | downstream gene variant | T/C | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 2 | 20934123 | intergenic variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
4 | 147539622 | intron variant | T/C | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 19943601 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
19 | 19394278 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 6836678 | intron variant | C/T | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | |||||||
|
15 | 43724219 | downstream gene variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 64245143 | intron variant | A/G | snv | 4.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116739533 | regulatory region variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |