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 | 17 | 75850024 | intron variant | A/G | snv | 0.95 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
19 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.882 | 0.080 | 1 | 208073865 | intron variant | A/G | snv | 0.85 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.120 | 8 | 11722293 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 22 | 40689965 | intergenic variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 3 | 11990245 | intergenic variant | C/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.200 | 8 | 20179202 | missense variant | A/G | snv | 0.71 | 0.78 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 8 | 10355952 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.080 | 12 | 71954918 | intron variant | G/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 14 | 74684344 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 113493925 | intergenic variant | G/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 31785976 | 3 prime UTR variant | C/T | snv | 0.71 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 117274369 | intron variant | C/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.716 | 0.280 | 19 | 50377484 | 5 prime UTR variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.080 | 5 | 37832731 | intron variant | G/A | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 103279484 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 3 | 52234850 | intron variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 5 | 32394809 | intron variant | T/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 13 | 55411477 | intergenic variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 22 | 24430704 | intron variant | T/C | snv | 0.62 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 2 | 156196868 | intron variant | G/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 89822180 | 3 prime UTR variant | C/T | snv | 0.58 | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 3 | 85545278 | intron variant | A/C | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 |