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 | 0.200 | 16 | 3249592 | missense variant | G/C | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 22 | 17189987 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 16 | 50712108 | missense variant | G/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 22 | 17203576 | missense variant | G/A | snv | 5.2E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 16 | 3254736 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 16 | 50710956 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 16 | 3249480 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 15 | 77032888 | missense variant | G/A;C | snv | 2.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 12 | 6333376 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 16 | 50712357 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.280 | 6 | 90287050 | intron variant | A/G | snv | 0.38 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.360 | 1 | 113830881 | intron variant | A/C;G | snv | 0.56 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
9 | 0.763 | 0.320 | 7 | 150992855 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
10 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.360 | 6 | 90170316 | intron variant | C/A | snv | 0.72 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.480 | 1 | 113872746 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.280 | 21 | 44195140 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.200 | 6 | 31416702 | intron variant | G/A | snv | 5.3E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.320 | 6 | 90247744 | intron variant | C/T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
9 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.280 | 17 | 27779649 | intron variant | A/G | snv | 0.31 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.280 | 7 | 128939366 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
4 | 0.851 | 0.360 | 21 | 44195678 | intron variant | G/A | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | < 0.001 | 1 | 2012 | 2012 |