| 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 | 67983453 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
1 | 230169242 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
7 | 130761118 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
12 | 109471206 | missense variant | A/C;G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 142395874 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 226234818 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 3 | 121941817 | 3 prime UTR variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.160 | 16 | 72054562 | 5 prime UTR variant | A/C;G | snv | 7.9E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
4 | 156813523 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.080 | 19 | 44952664 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
9 | 120868947 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
15 | 63104668 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
3 | 186104985 | non coding transcript exon variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 125469505 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
3 | 52495883 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
10 | 45517829 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2013 | 2018 | |||||||||||
|
1 | 109264661 | intron variant | A/C;T | snv | 4.0E-06; 0.10 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
12 | 7498542 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
8 | 120860224 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.200 | 11 | 116741111 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
11 | 122649583 | regulatory region variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 |
|
0.800 | 1.000 | 10 | 2009 | 2019 | ||||||||
|
0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 9 | 2008 | 2019 | ||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 7 | 2010 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 7 | 2010 | 2019 |