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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 1.000 | 15 | 2007 | 2020 | |||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.850 | 1.000 | 9 | 2009 | 2018 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.840 | 0.889 | 9 | 2008 | 2017 | ||||
|
6 | 0.827 | 0.120 | 1 | 19845367 | TF binding site variant | G/A | snv | 0.52 | 0.810 | 1.000 | 9 | 2009 | 2017 | ||||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.050 | 0.800 | 5 | 2007 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 1999 | 2016 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.730 | 1.000 | 4 | 2011 | 2016 | |||
|
6 | 0.827 | 0.120 | 1 | 200132792 | intron variant | A/G | snv | 0.84 | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||
|
5 | 0.827 | 0.120 | 1 | 19816373 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 4 | 2009 | 2016 | ||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.730 | 1.000 | 4 | 2008 | 2016 | ||||
|
3 | 0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.820 | 1.000 | 3 | 2009 | 2020 | ||||
|
4 | 1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 | 0.800 | 1.000 | 3 | 2009 | 2017 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.820 | 1.000 | 3 | 2010 | 2017 | |||||
|
9 | 0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 | 0.800 | 1.000 | 3 | 2009 | 2016 | ||||
|
6 | 0.827 | 0.120 | 1 | 7962137 | intron variant | G/T | snv | 0.22 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
10 | 0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
2 | 1.000 | 0.040 | 1 | 2569899 | downstream gene variant | C/T | snv | 0.51 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.120 | 1 | 161502368 | upstream gene variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2015 | |||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
6 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
10 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
8 | 0.790 | 0.280 | 1 | 67287825 | intergenic variant | C/T | snv | 0.55 | 0.020 | < 0.001 | 2 | 2015 | 2017 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 1.000 | 2 | 2008 | 2012 |