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 | 0.040 | 3 | 12218116 | intergenic variant | C/T | snv | 0.93 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.760 | 0.857 | 7 | 2006 | 2019 | |||
|
2 | 0.925 | 0.080 | 12 | 5043783 | upstream gene variant | C/T | snv | 0.88 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.240 | 1 | 67336688 | intron variant | A/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.200 | 19 | 43670636 | upstream gene variant | C/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 15 | 33968868 | 5 prime UTR variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 173363490 | non coding transcript exon variant | A/C | snv | 0.79 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.870 | 0.778 | 9 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.040 | 17 | 75228544 | 5 prime UTR variant | G/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 7 | 116542000 | intron variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 1.000 | 0.040 | 16 | 28933075 | missense variant | C/G | snv | 0.72 | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.160 | 6 | 106121395 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.320 | 6 | 31382927 | upstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 4 | 102527884 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 15 | 75132252 | intergenic variant | A/C | snv | 0.71 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
14 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 0.925 | 0.160 | 6 | 31515638 | upstream gene variant | C/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.200 | 6 | 31513749 | upstream gene variant | G/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 106129493 | intron variant | A/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 11 | 60464852 | intron variant | A/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 3 | 58389559 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 |