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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 20 | 32807793 | missense variant | G/A;T | snv | 2.8E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 9 | 894044 | missense variant | A/G | snv | 2.7E-03 | 1.3E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 100975538 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 77969564 | missense variant | C/A;G | snv | 5.5E-06; 3.2E-03 | 7.9E-04 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 1 | 91979700 | missense variant | C/G;T | snv | 0.21; 1.6E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.040 | 12 | 24031610 | intron variant | G/C | snv | 0.43 | 0.720 | 0.500 | 2 | 2011 | 2015 | ||||
|
4 | 0.882 | 0.040 | 1 | 106793679 | regulatory region variant | G/A;T | snv | 0.720 | 0.500 | 2 | 2011 | 2015 | |||||
|
6 | 0.807 | 0.360 | 6 | 32440958 | intron variant | A/C | snv | 0.30 | 0.720 | 0.667 | 3 | 2012 | 2017 | ||||
|
7 | 0.807 | 0.040 | 1 | 2461209 | intron variant | G/C | snv | 0.64 | 0.720 | 1.000 | 2 | 2011 | 2015 | ||||
|
3 | 0.882 | 0.160 | 6 | 32318984 | intron variant | T/G | snv | 0.14 | 0.710 | 1.000 | 2 | 2012 | 2017 | ||||
|
7 | 0.827 | 0.280 | 6 | 32444703 | 3 prime UTR variant | G/A | snv | 0.61 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.040 | 7 | 91638848 | non coding transcript exon variant | G/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 12 | 24032586 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 2459149 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 9 | 9945648 | intron variant | T/C | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 5 | 96886185 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 151775494 | missense variant | A/G;T | snv | 0.23 | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 6 | 31755958 | intron variant | C/T | snv | 4.6E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 160189298 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 103871299 | upstream gene variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 41560644 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 13 | 33718141 | regulatory region variant | T/C | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.160 | 6 | 31946402 | missense variant | C/G;T | snv | 4.1E-06; 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 52152310 | upstream gene variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 13 | 36204635 | intron variant | C/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 |