| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 139514262 | intron variant | C/G | snv | 0.52 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
8 | 125469505 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
8 | 125511281 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2018 | |||||||||||
|
8 | 20076385 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
10 | 93079967 | downstream gene variant | G/T | snv | 0.42 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
8 | 18414928 | intergenic variant | C/T | snv | 0.71 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
11 | 116714271 | intergenic variant | C/A;T | snv | 0.62 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
16 | 56953457 | intergenic variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
20 | 45923216 | downstream gene variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
6 | 139518361 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||||
|
1.000 | 0.040 | 11 | 116799960 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 20983311 | regulatory region variant | T/G | snv | 0.27 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
8 | 20070502 | intergenic variant | T/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
6 | 127093656 | non coding transcript exon variant | C/A;T | snv | 0.61 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
8 | 19982897 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
2 | 20985339 | regulatory region variant | A/G | snv | 0.23 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
11 | 116796829 | upstream gene variant | C/T | snv | 4.4E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
17 | 43763481 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||||
|
7 | 73643687 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
5 | 173965395 | downstream gene variant | A/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 238975165 | regulatory region variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 11919395 | downstream gene variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 26048829 | intergenic variant | C/- | del | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 63122540 | downstream gene variant | C/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |