| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 6 | 160073377 | missense variant | A/C;G;T | snv | 0.90 | 0.91 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 119809354 | intron variant | T/C | snv | 0.91 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.776 | 0.200 | 11 | 122146306 | intron variant | C/A | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 7 | 55067126 | intron variant | A/G | snv | 0.86 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.120 | 14 | 104797271 | upstream gene variant | A/G | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.080 | 4 | 186081871 | non coding transcript exon variant | C/G | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 106142488 | intron variant | A/C | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.882 | 0.120 | 3 | 8913705 | missense variant | C/T | snv | 0.68 | 0.70 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 10 | 129691518 | intron variant | A/C;G | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.120 | 15 | 78617197 | intron variant | G/T | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.742 | 0.240 | 19 | 43575535 | 5 prime UTR variant | G/A | snv | 0.65 | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.742 | 0.320 | 13 | 30457747 | 3 prime UTR variant | C/T | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.160 | 15 | 58750164 | intron variant | C/A | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.320 | 4 | 186555751 | upstream gene variant | T/C | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
7 | 55182437 | non coding transcript exon variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 10 | 113574365 | synonymous variant | C/T | snv | 0.63 | 0.55 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |