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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 3 | 86720838 | intergenic variant | A/G | snv | 6.6E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 4 | 141732548 | intron variant | A/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.120 | 4 | 141788570 | intergenic variant | T/C | snv | 7.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.790 | 0.120 | 4 | 85766908 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
13 | 0.732 | 0.240 | 4 | 54727298 | missense variant | A/C;G;T | snv | 7.7E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 4 | 83310951 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.120 | 4 | 108163665 | missense variant | G/A | snv | 1.0E-03 | 3.4E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.120 | 4 | 1961074 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.851 | 0.120 | 5 | 609978 | intron variant | C/T | snv | 0.32 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 0.882 | 0.120 | 5 | 143400121 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 5 | 143399842 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.120 | 5 | 143400541 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.120 | 5 | 143314010 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2019 | 2019 |