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 | 28878165 | upstream gene variant | C/A;T | snv | 0.35 |
|
0.700 | 1.000 | 5 | 2015 | 2017 | ||||||||||
|
9 | 15634328 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 5 | 2015 | 2019 | |||||||||||
|
20 | 52471323 | intron variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 5 | 2015 | 2018 | ||||||||||
|
9 | 109170062 | upstream gene variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||||
|
3 | 25064946 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||||
|
14 | 103683138 | non coding transcript exon variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||||
|
1.000 | 0.080 | 3 | 186116501 | intron variant | T/C | snv | 0.74 |
|
0.700 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
7 | 93568420 | intron variant | G/C | snv | 0.30 |
|
0.700 | 1.000 | 5 | 2015 | 2018 | ||||||||||
|
2 | 206380059 | intergenic variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||||
|
0.925 | 0.120 | 6 | 50835337 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
2 | 59078490 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 4 | 2015 | 2019 | |||||||||||
|
7 | 49576607 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | ||||||||||
|
9 | 126698635 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 4 | 2015 | 2019 | |||||||||||
|
2 | 6015425 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 4 | 2015 | 2019 | |||||||||||
|
12 | 830314 | intron variant | G/T | snv | 0.19 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | ||||||||||
|
0.925 | 0.120 | 19 | 45669020 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | |||||||
|
2 | 62825913 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 4 | 2015 | 2018 | ||||||||||
|
14 | 30045906 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 4 | 2010 | 2018 | ||||||||||
|
16 | 337867 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | ||||||||||
|
1 | 74536509 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 4 | 2015 | 2017 | ||||||||||
|
0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 4 | 2016 | 2019 | ||||||||
|
13 | 79006784 | intergenic variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | ||||||||||
|
5 | 123321505 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 4 | 2017 | 2019 | |||||||||||
|
15 | 67784830 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 4 | 2015 | 2019 |