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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.200 | 15 | 78615690 | intron variant | A/G | snv | 0.29 | 0.710 | 1.000 | 2 | 2009 | 2014 | ||||
|
2 | 0.925 | 0.080 | 3 | 189639813 | intron variant | T/C | snv | 0.45 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 6 | 33091097 | downstream gene variant | C/T | snv | 0.27 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2016 | ||||
|
9 | 0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 2 | 29220734 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
5 | 0.882 | 0.160 | X | 47566722 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
2 | 0.925 | 0.080 | 7 | 55174785 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2014 | ||||
|
11 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2014 | ||||
|
23 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
2 | 0.925 | 0.080 | 8 | 32552592 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
15 | 0.776 | 0.240 | 5 | 1285859 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
3 | 0.882 | 0.080 | 6 | 41525674 | intron variant | G/A | snv | 6.6E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 0.925 | 0.080 | 15 | 49084427 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
12 | 0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
9 | 0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
22 | 0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 9 | 21787522 | intergenic variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |