| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 101481058 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
7 | 1018557 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 3 | 102029794 | regulatory region variant | A/G | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
2 | 102128394 | intron variant | C/A;T | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 102140679 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
12 | 103089316 | intron variant | A/G | snv | 0.60 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
12 | 103101373 | intron variant | T/C | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
12 | 103118536 | intron variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 103143488 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 19 | 10912758 | intron variant | C/T | snv | 0.13 |
|
0.700 | 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 | ||||||||
|
0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
12 | 111658411 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 111887504 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.827 | 0.120 | 11 | 112152125 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 11 | 112153104 | non coding transcript exon variant | C/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
11 | 112166291 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
11 | 112174194 | intron variant | C/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
11 | 112209661 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.080 | 11 | 112214593 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
12 | 112261736 | non coding transcript exon variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 113074735 | missense variant | T/C | snv | 0.56 | 0.57 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
2 | 113074756 | missense variant | C/A | snv | 0.69 | 0.69 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
2 | 113077243 | downstream gene variant | A/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 113078114 | downstream gene variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |