| 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 | ||||||||||
|
4 | 26061368 | regulatory region variant | A/G | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
8 | 19964304 | intron variant | T/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 10156645 | intron variant | G/C | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 104898869 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 134415237 | intron variant | G/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 54889676 | intron variant | C/T | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 202554561 | intron variant | A/G | snv | 7.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 155207180 | non coding transcript exon variant | T/C | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
7 | 73487060 | intron variant | A/T | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 106258428 | intron variant | C/T | snv | 5.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 150876501 | intron variant | G/A;C | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 150838529 | intron variant | T/C | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 19943601 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
19 | 19244291 | intron variant | T/C | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 19064943 | intron variant | T/G | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 19009572 | intron variant | C/T | snv | 2.4E-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 | 2 | 2010 | 2019 | |||||||
|
19 | 19047391 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
22 | 24131331 | intron variant | G/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
6 | 12297276 | downstream gene variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |