| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 156464911 | 3 prime UTR variant | G/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1 | 150289855 | upstream gene variant | C/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.160 | 1 | 206771516 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 39110310 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.882 | 0.040 | 1 | 3167148 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1 | 96721618 | upstream gene variant | A/C;G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 3168622 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 51014586 | intergenic variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 233916724 | upstream gene variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
3 | 154545386 | intergenic variant | T/C | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.200 | 4 | 147519875 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.080 | 5 | 141634927 | synonymous variant | T/C | snv | 0.62 | 0.68 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 |
|
0.030 | 1.000 | 3 | 1998 | 2012 | |||||||
|
6 | 77463033 | missense variant | A/C;G | snv | 9.9E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 6 | 26384865 | intron variant | C/G | snv | 7.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
6 | 32201219 | missense variant | C/G;T | snv | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 32212846 | missense variant | C/A | snv | 1.1E-02 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |