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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 2 | 200157231 | intergenic variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.120 | 1 | 238128048 | intergenic variant | C/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 10 | 61964631 | intron variant | A/G | snv | 0.74 | 0.710 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 48093537 | intron variant | C/T | snv | 0.69 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 10 | 61963136 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 0.810 | 1.000 | 5 | 2009 | 2019 | ||||
|
2 | 1.000 | 0.120 | 14 | 23116809 | downstream gene variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 23116124 | downstream gene variant | C/T | snv | 0.68 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 10 | 22544224 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 23107402 | upstream gene variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.120 | 10 | 61940136 | intron variant | A/C | snv | 0.58 | 0.64 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 7 | 50605210 | non coding transcript exon variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.200 | 19 | 44007237 | intron variant | G/T | snv | 0.62 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 10 | 22564173 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 10 | 61963681 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.120 | 1 | 119714487 | splice region variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.120 | 7 | 50477395 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 10 | 61965014 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.120 | 10 | 22564019 | intron variant | C/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 10 | 22551654 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 7 | 50473045 | intron variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.790 | 0.240 | 10 | 61958720 | intron variant | C/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.120 | 10 | 61950345 | intron variant | A/G | snv | 0.49 | 0.710 | 1.000 | 3 | 2009 | 2019 | ||||
|
9 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 |