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 | 1.000 | 0.080 | 5 | 112815549 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 5 | 112835036 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.200 | 7 | 116783359 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
36 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.120 | 1 | 159728759 | intergenic variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 4 | 1807159 | missense variant | G/A;C | snv | 3.2E-05; 2.3E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 211947467 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 23200675 | intron variant | T/A;C | snv | 0.29 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 8 | 27810979 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.827 | 0.120 | 2 | 29222347 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.160 | 19 | 3118944 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 17 | 39712330 | missense variant | G/A;C | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.763 | 0.200 | 10 | 43112173 | missense variant | G/A;T | snv | 4.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 7 | 55174776 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2017 | 2017 |