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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.740 | 1.000 | 6 | 2009 | 2017 | ||||
|
25 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 0.730 | 1.000 | 3 | 2009 | 2015 | ||||
|
8 | 0.807 | 0.040 | 6 | 475489 | non coding transcript exon variant | C/T | snv | 0.11 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.040 | 13 | 99389484 | downstream gene variant | G/C | snv | 0.80 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 7 | 129209348 | missense variant | G/A;C | snv | 2.4E-05 | 0.700 | 1.000 | 3 | 2009 | 2015 | ||||
|
6 | 0.807 | 0.120 | 1 | 17395867 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 2 | 2008 | 2014 | ||||
|
5 | 0.827 | 0.120 | 1 | 228862088 | downstream gene variant | T/G | snv | 0.48 | 0.700 | 1.000 | 2 | 2008 | 2014 | ||||
|
3 | 0.925 | 0.080 | 6 | 471136 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.040 | 7 | 130900794 | intron variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.040 | 20 | 2301324 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.040 | 20 | 2309687 | missense variant | C/A;G;T | snv | 0.82; 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.701 | 0.360 | 9 | 22034720 | non coding transcript exon variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.040 | 20 | 2239664 | intron variant | A/G;T | snv | 0.34 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.040 | 8 | 100012277 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.080 | 7 | 129210500 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 7 | 129210997 | missense variant | G/A | snv | 4.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 5 | 87349304 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 5 | 87349309 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 5 | 87349312 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
35 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 0.700 | 0 | ||||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.120 | 11 | 108229185 | stop gained | C/G;T | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.360 | 11 | 108316114 | splice donor variant | G/A | snv | 4.0E-06 | 0.700 | 0 |