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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 1 | 8466082 | intron variant | G/A | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.851 | 0.040 | 1 | 8362616 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 1 | 8362616 | intron variant | T/C | snv | 0.72 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 1 | 8362616 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 1 | 8362616 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 1 | 8362616 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 8460428 | intron variant | AAG/- | delins | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.851 | 0.120 | 1 | 8422018 | intron variant | C/T | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 1 | 8424763 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 1 | 8424763 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 1 | 8424763 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 8438266 | 3 prime UTR variant | -/G | delins | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 8641229 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 1 | 8428505 | non coding transcript exon variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 8428505 | non coding transcript exon variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 1 | 8422018 | intron variant | C/T | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 1 | 8400188 | intron variant | CA/- | del | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 8444361 | intron variant | C/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.040 | 1 | 8362616 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 8407293 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 8420956 | intron variant | T/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 8420956 | intron variant | T/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 1 | 8424763 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 1 | 8364925 | intron variant | A/- | delins | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 8371547 | intron variant | C/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |