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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 22 | 43995806 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.200 | 22 | 43932850 | intron variant | G/A | snv | 0.24 | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.160 | 17 | 17506246 | missense variant | C/T | snv | 0.59 | 0.59 |
|
0.020 | 1.000 | 2 | 2007 | 2019 | |||||||
|
0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 22 | 43937292 | intron variant | A/G | snv | 0.25 | 0.20 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.120 | 16 | 53766842 | intron variant | G/A | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 |
|
0.710 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.882 | 0.120 | 6 | 26091108 | splice region variant | T/C | snv | 0.38 | 0.36 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 22 | 43936773 | intron variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 4 | 23824109 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.040 | 3 | 186854563 | synonymous variant | C/T | snv | 6.4E-05 | 2.6E-04 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 3 | 119806650 | intron variant | A/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 1 | 203122146 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 1 | 99317401 | intergenic variant | C/A | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 22 | 43998522 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 22 | 43982119 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 22 | 43972242 | missense variant | A/G | snv | 0.21 | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 22 | 43981562 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 22 | 43997195 | intron variant | C/T | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 8 | 9327181 | intron variant | T/C | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 22 | 43928850 | synonymous variant | C/T | snv | 0.28 | 0.22 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 3 | 12434028 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 22 | 43999571 | missense variant | T/A;C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |