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 | 137022583 | intron variant | T/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 6 | 137027888 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 1 | 113870045 | non coding transcript exon variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 3 | 122337642 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
10 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 6 | 31271780 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
9 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 15 | 51083632 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 20 | 3667731 | upstream gene variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 8 | 104093501 | missense variant | G/A;T | snv | 4.4E-06; 4.4E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 17 | 81126523 | missense variant | G/A | snv | 4.0E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 17 | 81121922 | missense variant | C/T | snv | 1.3E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.160 | 20 | 3669074 | intron variant | T/C | snv | 0.65 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 1 | 152806050 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 17 | 82830615 | missense variant | C/G;T | snv | 3.2E-05; 3.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 17 | 81122231 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 17 | 81231983 | missense variant | C/T | snv | 2.6E-03 | 9.5E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.040 | 13 | 39776775 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.827 | 0.240 | 6 | 137878280 | intron variant | G/T | snv | 0.58 | 0.860 | 1.000 | 10 | 2009 | 2015 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 0.875 | 8 | 2009 | 2018 | |||
|
4 | 0.851 | 0.160 | 5 | 151098757 | downstream gene variant | G/A | snv | 7.1E-02 | 0.820 | 1.000 | 7 | 2009 | 2015 | ||||
|
7 | 0.851 | 0.120 | 6 | 31285148 | intron variant | C/T | snv | 0.12 | 0.830 | 1.000 | 5 | 2009 | 2015 | ||||
|
8 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 0.810 | 1.000 | 5 | 2009 | 2015 |