| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 58377808 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 64970119 | downstream gene variant | G/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 170254627 | intron variant | T/C | snv | 8.6E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 76625137 | intron variant | C/T | snv | 4.7E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 168741790 | intron variant | C/A;T | snv | 6.7E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 3193201 | intron variant | T/C | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 18424258 | 5 prime UTR variant | A/C | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 5819886 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 23187889 | intron variant | G/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 48030514 | intron variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 63490971 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
11 | 46739325 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 169355555 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 170366687 | downstream gene variant | G/A | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 169825364 | intron variant | A/G | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 170123530 | intergenic variant | T/G | snv | 6.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 7304568 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 206828392 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
4 | 186306297 | intron variant | T/C | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
8 | 13121891 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 154616169 | upstream gene variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
8 | 28040935 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 114120337 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 10528857 | intergenic variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 70913550 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |