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 | 4 | 143587435 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.030 | 1.000 | 3 | 2010 | 2020 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2010 | 2020 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
53 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.020 | 1.000 | 2 | 2008 | 2015 | ||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
25 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 0.020 | 1.000 | 2 | 2007 | 2019 | |||
|
13 | 0.752 | 0.320 | 17 | 34285875 | missense variant | G/A;C;T | snv | 0.16; 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.776 | 0.360 | 12 | 121902546 | non coding transcript exon variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.790 | 0.200 | 20 | 4699752 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
11 | 0.827 | 0.200 | 22 | 24429543 | non coding transcript exon variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.080 | 2 | 238147187 | intron variant | G/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 8 | 53248556 | intron variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 8 | 53239818 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.882 | 0.160 | 3 | 49099606 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.882 | 0.160 | 3 | 49100222 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 | 0.700 | 0 |