Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.740 | 1.000 | 5 | 2010 | 2015 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.740 | 1.000 | 4 | 2009 | 2015 | |||||
|
4 | 0.882 | 0.200 | 1 | 200038304 | intron variant | A/C;G | snv | 0.730 | 1.000 | 4 | 2010 | 2018 | |||||
|
2 | 0.925 | 0.120 | 11 | 9951515 | intron variant | T/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 21 | 29305751 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 21 | 29313290 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 21 | 29328775 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 21 | 29348513 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 11 | 9907995 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.120 | 10 | 118519432 | intergenic variant | T/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 18 | 13366863 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 3 | 74669607 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.160 | 4 | 79043433 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 21 | 42358786 | downstream gene variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 20 | 2674279 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 12 | 27583053 | intron variant | G/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.120 | 21 | 29354452 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 2 | 67392524 | intron variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 170019278 | regulatory region variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 21 | 45499218 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 5 | 39394887 | intron variant | C/A | snv | 0.98 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 21 | 29356542 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 29164379 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.827 | 0.360 | 21 | 29345416 | 3 prime UTR variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 13 | 32340761 | frameshift variant | AAATGTT/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 |