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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 6 | 3010156 | missense variant | C/T | snv | 0.79 | 0.84 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.925 | 0.040 | 14 | 100159565 | missense variant | C/T | snv | 0.73 | 0.76 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
16 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
24 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 5 | 102391066 | non coding transcript exon variant | T/C | snv | 0.24 | 0.21 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.851 | 0.160 | 19 | 44892962 | intron variant | C/T | snv | 0.24 | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.080 | 1.000 | 8 | 2006 | 2020 | |||
|
6 | 0.882 | 0.160 | 14 | 20472447 | missense variant | G/A | snv | 0.19 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.710 | 1.000 | 2 | 2017 | 2019 | |||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.800 | 1.000 | 1 | 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 | |||
|
2 | 1.000 | 0.040 | 15 | 51215677 | intron variant | G/A | snv | 0.11 | 8.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.851 | 0.160 | 3 | 165837337 | synonymous variant | C/T | snv | 5.6E-02 | 5.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
11 | 0.776 | 0.160 | 17 | 49510457 | missense variant | C/T | snv | 5.2E-02 | 4.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.807 | 0.160 | 1 | 45334484 | missense variant | C/A;T | snv | 4.8E-02 | 4.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 0.807 | 0.200 | 8 | 11786044 | missense variant | G/A;C;T | snv | 4.0E-05; 3.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
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 | |||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.882 | 0.160 | 1 | 155236246 | missense variant | G/A | snv | 5.9E-03 | 6.2E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 |