| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 45529281 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.040 | 16 | 190281 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
7 | 50360730 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
22 | 50533323 | upstream gene variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
2 | 60381624 | intron variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
14 | 65008822 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
X | 154785832 | intron variant | C/T | snv | 7.8E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 139512875 | intron variant | T/G | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||||
|
6 | 135131014 | intergenic variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2012 | |||||||||||
|
6 | 139514552 | intron variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2012 | 2013 | ||||||||||
|
16 | 254804 | intron variant | A/T | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
7 | 100616392 | downstream gene variant | A/G | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2012 | |||||||||
|
8 | 129591389 | intron variant | C/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 144435759 | intron variant | C/T | snv | 6.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 110852366 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 111092082 | intron variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 92644264 | intron variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 44831334 | intron variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 4061546 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 18526808 | upstream gene variant | C/G | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 44906863 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |