| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 19 | 1050421 | intron variant | A/G | snv | 1.7E-02 |
|
0.830 | 0.667 | 1 | 2013 | 2019 | ||||||||
|
0.851 | 0.120 | 6 | 150885942 | intron variant | G/A;T | snv |
|
0.820 | 0.667 | 1 | 2010 | 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 | ||||||||
|
0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 |
|
0.900 | 0.826 | 2 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 1056493 | missense variant | G/C;T | snv | 0.84; 4.1E-06 |
|
0.850 | 0.833 | 1 | 2011 | 2019 | ||||||||
|
0.851 | 0.080 | 11 | 86077309 | regulatory region variant | C/T | snv | 0.71 |
|
0.760 | 0.857 | 1 | 2011 | 2019 | ||||||||
|
0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 |
|
0.900 | 0.913 | 3 | 2009 | 2018 | ||||||||
|
0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 |
|
0.900 | 0.923 | 1 | 2013 | 2020 | ||||||||
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.900 | 0.950 | 8 | 2009 | 2019 | ||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.900 | 1.000 | 14 | 2009 | 2020 | |||||||
|
0.827 | 0.120 | 19 | 44878777 | 3 prime UTR variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 10 | 2008 | 2019 | ||||||||
|
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 | ||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.820 | 1.000 | 7 | 2007 | 2019 | ||||||||
|
0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.810 | 1.000 | 6 | 2009 | 2017 | ||||||||
|
0.851 | 0.160 | 19 | 44892962 | intron variant | C/T | snv | 0.24 | 0.29 |
|
0.810 | 1.000 | 5 | 2010 | 2019 | |||||||
|
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 | ||||||||
|
0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 |
|
0.900 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 44903416 | 3 prime UTR variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
0.925 | 0.080 | 12 | 47245743 | intron variant | T/C | snv | 9.7E-02 |
|
0.800 | 1.000 | 3 | 2009 | 2011 |