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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.925 | 0.040 | 19 | 29702747 | missense variant | T/C | snv | 2.3E-03 | 1.1E-03 | 0.700 | 0 | ||||||
|
22 | 0.724 | 0.360 | 17 | 42543840 | missense variant | A/G | snv | 5.4E-05 | 1.3E-04 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.200 | 10 | 122489463 | missense variant | C/G | snv | 0.700 | 1.000 | 6 | 2009 | 2016 | |||||
|
18 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
18 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 0.700 | 0 | ||||||||
|
21 | 0.851 | 0.200 | X | 20187956 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
13 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 4 | 1993 | 2018 | |||||
|
4 | 0.925 | 0.120 | X | 154031259 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 21 | 41460614 | downstream gene variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
35 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.160 | 19 | 44892962 | intron variant | C/T | snv | 0.24 | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 8 | 114496877 | intergenic variant | G/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.882 | 0.080 | 17 | 49213276 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 0.020 | 1.000 | 2 | 2002 | 2013 | |||
|
8 | 0.827 | 0.160 | 3 | 85555773 | intron variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 15 | 51215677 | intron variant | G/A | snv | 0.11 | 8.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 4 | 46941670 | intron variant | C/T | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.882 | 0.080 | 2 | 173019562 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2014 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.040 | 1.000 | 4 | 2008 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.040 | 1.000 | 4 | 2008 | 2019 | |||||
|
6 | 0.827 | 0.080 | 21 | 25897619 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |