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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 11 | 101900702 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
14 | 0.724 | 0.240 | 2 | 102464132 | intergenic variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
25 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
14 | 0.724 | 0.240 | 19 | 10476920 | intergenic variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 13 | 106410694 | intergenic variant | T/C | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.807 | 0.320 | 16 | 11086016 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.200 | 16 | 11095291 | intron variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.807 | 0.280 | 16 | 11155472 | non coding transcript exon variant | G/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
41 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.090 | 0.889 | 9 | 2005 | 2015 | |||
|
11 | 0.763 | 0.480 | 1 | 113872746 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 117208743 | intron variant | C/T | snv | 0.16 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 0.500 | 2 | 2005 | 2015 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 1.000 | 2 | 2005 | 2015 | |||
|
1 | 1.000 | 0.120 | 7 | 117737591 | intron variant | G/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2005 | 2010 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2005 | 2018 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 3 | 119508400 | intron variant | G/A;C | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.724 | 0.240 | 4 | 122639784 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
11 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.724 | 0.240 | 9 | 12785074 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 18 | 12821904 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 |