| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 56953457 | intergenic variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1.000 | 0.080 | 19 | 54304302 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2019 | |||||||||
|
17 | 43763481 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2018 | |||||||||||
|
11 | 122651667 | upstream gene variant | T/C | snv | 0.39 |
|
0.800 | 1.000 | 3 | 2010 | 2018 | ||||||||||
|
6 | 43790159 | downstream gene variant | C/A | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
4 | 26061368 | regulatory region variant | A/G | snv | 0.17 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 20070649 | intergenic variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
4 | 26048829 | intergenic variant | C/- | del | 0.18 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
8 | 125483576 | intron variant | C/T | snv | 0.39 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||||
|
1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
2 | 20976028 | intergenic variant | G/A | snv | 0.25 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 44738916 | intergenic variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 19990569 | intergenic variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 19995007 | regulatory region variant | C/T | snv | 0.25 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
16 | 56957451 | upstream gene variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
6 | 127114919 | intron variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
10 | 93079885 | downstream gene variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
7 | 80711306 | regulatory region variant | C/A | snv | 0.94 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
11 | 116710925 | intergenic variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
16 | 67983453 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
15 | 63104668 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
2 | 226298926 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||||
|
1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 226251649 | intergenic variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 2 | 2017 | 2019 |