| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 21378943 | regulatory region variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 156229203 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 8390126 | intron variant | G/A | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 50288880 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
2 | 70537556 | intron variant | C/A | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 237719866 | intron variant | C/T | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 96431316 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
3 | 162964207 | intergenic variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 124678475 | non coding transcript exon variant | T/- | delins | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 85482049 | intron variant | A/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
3 | 48445934 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
4 | 1371339 | intron variant | T/C | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
4 | 42267463 | non coding transcript exon variant | T/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 75968235 | intron variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
4 | 88928621 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 136739228 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
4 | 8563820 | intron variant | G/A | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 174283195 | intergenic variant | T/- | del | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
6 | 126665850 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 102438768 | intergenic variant | C/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 106381662 | intron variant | T/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
6 | 166292681 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
7 | 999367 | intron variant | A/C | snv | 0.62 |
|
0.800 | 1.000 | 1 | 2010 | 2010 |