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 | 0.925 | 0.080 | 5 | 175443899 | 5 prime UTR variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.070 | 0.857 | 7 | 2001 | 2017 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.040 | 1.000 | 4 | 2009 | 2019 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 1.000 | 4 | 2011 | 2016 | |||
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
5 | 0.827 | 0.200 | 1 | 28863085 | synonymous variant | C/T | snv | 0.59 | 0.50 | 0.020 | 1.000 | 2 | 2002 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 28835097 | intron variant | T/C | snv | 0.28 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 154062523 | intron variant | T/C | snv | 0.17 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2009 | 2014 | ||||
|
5 | 0.882 | 0.080 | 7 | 70341037 | intron variant | T/A | snv | 0.34 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.080 | 5 | 175445317 | upstream gene variant | A/G | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.925 | 0.080 | 2 | 79751234 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 20 | 1973693 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 1 | 163535374 | intergenic variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.160 | 11 | 27643996 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 17 | 65218385 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 4 | 46388848 | 5 prime UTR variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 11 | 113910259 | intron variant | T/C | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 |