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 | 6 | 74822861 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.050 | 0.600 | 5 | 2011 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.050 | 0.800 | 5 | 2011 | 2019 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
16 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2018 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.020 | 1.000 | 2 | 2012 | 2019 | |||
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2013 | 2013 | ||||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.790 | 0.120 | 6 | 77463665 | 5 prime UTR variant | A/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.925 | 0.120 | 18 | 63178651 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
18 | 0.695 | 0.400 | 7 | 24283791 | upstream gene variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 12 | 79699537 | intron variant | A/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
8 | 0.807 | 0.280 | 11 | 67479201 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
18 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
14 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.040 | 11 | 113447251 | intron variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 17 | 45800588 | non coding transcript exon variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
14 | 0.776 | 0.360 | 12 | 121902546 | non coding transcript exon variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
18 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 6 | 169226486 | intron variant | T/C | snv | 6.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 |