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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 19 | 10380572 | 5 prime UTR variant | T/C | snv | 5.0E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 19 | 10380646 | upstream gene variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.710 | 1.000 | 2 | 2008 | 2016 | |||
|
6 | 0.807 | 0.320 | 8 | 11482672 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.807 | 0.400 | 8 | 11486171 | upstream gene variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
3 | 0.882 | 0.160 | 8 | 11534141 | intron variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
18 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
19 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.080 | 6 | 31466589 | non coding transcript exon variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.160 | 9 | 34737831 | intron variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.807 | 0.200 | 9 | 34743684 | intron variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.200 | 9 | 4291747 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.827 | 0.240 | 9 | 4292083 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.200 | 9 | 4293150 | intron variant | A/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.807 | 0.320 | 12 | 56076841 | 5 prime UTR variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 |