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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.900 | 0.980 | 101 | 2005 | 2019 | |||
|
13 | 0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 | 0.060 | 0.833 | 6 | 2011 | 2019 | |||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.040 | 1.000 | 4 | 2009 | 2019 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.020 | 1.000 | 2 | 2001 | 2015 | |||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.020 | 1.000 | 2 | 2011 | 2011 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2014 | |||
|
5 | 0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 | 0.710 | 1.000 | 2 | 2011 | 2013 | ||||
|
11 | 0.763 | 0.480 | 1 | 113872746 | intron variant | G/A;C | snv | 0.020 | 0.500 | 2 | 2012 | 2013 | |||||
|
5 | 0.882 | 0.200 | 1 | 192567683 | intron variant | C/A | snv | 0.79 | 0.710 | 1.000 | 2 | 2011 | 2017 | ||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.710 | 1.000 | 2 | 2012 | 2015 | ||||
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
4 | 0.925 | 0.200 | 1 | 167442147 | intron variant | A/G | snv | 0.29 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
4 | 0.882 | 1 | 107832253 | intron variant | G/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
15 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1 | 2593476 | intron variant | G/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 0.851 | 0.080 | 1 | 2569783 | non coding transcript exon variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 1 | 150869191 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.200 | 1 | 236537507 | missense variant | T/A | snv | 0.61 | 0.61 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.160 | 1 | 116720516 | regulatory region variant | C/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1 | 2607299 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.882 | 0.360 | 1 | 113830881 | intron variant | A/C;G | snv | 0.56 | 0.010 | < 0.001 | 1 | 2012 | 2012 |