| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.820 | 1.000 | 7 | 2007 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 78285357 | intron variant | C/A;G | snv |
|
0.710 | 1.000 | 2 | 2007 | 2011 | |||||||||
|
0.925 | 0.080 | 11 | 78225120 | synonymous variant | A/G | snv | 0.25 | 0.27 |
|
0.700 | 1.000 | 2 | 2007 | 2011 | |||||||
|
0.925 | 0.080 | 11 | 78380104 | intron variant | C/A | snv | 0.24 |
|
0.900 | 0.750 | 2 | 2007 | 2018 | ||||||||
|
0.925 | 0.080 | 11 | 78279214 | intron variant | G/A | snv | 0.15 |
|
0.720 | 0.750 | 2 | 2007 | 2011 | ||||||||
|
1.000 | 0.080 | 11 | 78230030 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 11 | 78290202 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 11 | 78334025 | intron variant | G/C | snv | 0.27 |
|
0.710 | 1.000 | 1 | 2007 | 2011 | ||||||||
|
1.000 | 0.080 | 11 | 78219453 | intron variant | G/A | snv | 0.22 | 0.15 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.827 | 0.120 | 19 | 44878777 | 3 prime UTR variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 10 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 181951296 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 5 | 155190128 | intron variant | C/T | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 11 | 60425718 | upstream gene variant | C/T | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | X | 4779968 | intergenic variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.900 | 1.000 | 14 | 2009 | 2020 | |||||||
|
0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 |
|
0.810 | 1.000 | 9 | 2009 | 2019 | ||||||||
|
0.851 | 0.200 | 19 | 44911194 | non coding transcript exon variant | T/C | snv | 0.68 |
|
0.810 | 1.000 | 9 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 44898409 | intron variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 9 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 |
|
0.800 | 1.000 | 8 | 2009 | 2019 | ||||||||
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.900 | 0.950 | 8 | 2009 | 2019 | ||||||||
|
0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.810 | 1.000 | 6 | 2009 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 44848489 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 4 | 2009 | 2014 | ||||||||
|
1.000 | 0.080 | 19 | 44734556 | intergenic variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 4 | 2009 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 44857967 | intron variant | G/A | snv | 0.30 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 44903416 | 3 prime UTR variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 3 | 2009 | 2012 |