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 | 8 | 80451970 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 18 | 23007948 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.740 | 1.000 | 5 | 2008 | 2015 | |||
|
1 | 1.000 | 0.120 | 2 | 203864430 | upstream gene variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 18 | 62349000 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 6 | 32606283 | intergenic variant | A/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
15 | 0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 2 | 178780121 | missense variant | C/G | snv | 9.6E-05 | 9.1E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
6 | 0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.200 | 1 | 236537507 | missense variant | T/A | snv | 0.61 | 0.61 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.280 | 6 | 29569447 | intron variant | A/G | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.240 | 6 | 31172270 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 5 | 151059427 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.160 | 6 | 31005088 | regulatory region variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.320 | 6 | 32698749 | intergenic variant | C/T | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 32193653 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
20 | 0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 5 | 151060536 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.320 | 6 | 31113428 | upstream gene variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.827 | 0.320 | 6 | 31513328 | upstream gene variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 30112497 | synonymous variant | G/A | snv | 0.14 | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.280 | 6 | 30112216 | intron variant | A/C | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |