| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.200 | 7 | 148827660 | intron variant | C/T | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 |
|
0.020 | 1.000 | 2 | 2010 | 2015 | |||||||
|
0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 17 | 49334880 | intron variant | C/A | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.360 | 7 | 99784473 | upstream gene variant | C/T | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 |
|
0.040 | 1.000 | 4 | 2017 | 2019 | ||||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.080 | 16 | 53821379 | intron variant | A/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
21 | 34499081 | intron variant | C/T | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 4922962 | intron variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 18 | 55748146 | intron variant | G/A | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 18 | 52992904 | intron variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 |
|
0.040 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.807 | 0.280 | 12 | 102402744 | intron variant | G/C;T | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
11 | 95367983 | regulatory region variant | C/T | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 85495605 | 3 prime UTR variant | T/G | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 6 | 116809541 | missense variant | G/A | snv | 0.72 | 0.74 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 11 | 35202398 | intron variant | C/T | snv | 0.74 |
|
0.020 | < 0.001 | 2 | 2016 | 2016 | ||||||||
|
14 | 51148434 | intergenic variant | T/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 8777531 | intron variant | T/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
21 | 34300618 | intron variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.080 | 4 | 184631944 | splice region variant | T/G | snv | 0.64 | 0.73 |
|
0.020 | 1.000 | 2 | 2013 | 2018 |