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 | 1 | 102955788 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 7 | 106018014 | missense variant | C/A;G;T | snv | 7.2E-02; 2.0E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 110716148 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1.000 | 0.120 | 2 | 11641492 | 3 prime UTR variant | T/C | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 12 | 116564853 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.070 | 1.000 | 7 | 2004 | 2015 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 14 | 2001 | 2019 | |||
|
3 | 1.000 | 0.120 | 2 | 118661291 | regulatory region variant | A/G | snv | 1.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 1 | 119714487 | splice region variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 8 | 129143897 | intron variant | A/C;G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 7 | 130269008 | stop gained | C/T | snv | 8.8E-05 | 1.3E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.827 | 0.120 | 9 | 130862919 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2007 | 2012 | |||||
|
4 | 0.851 | 0.160 | 9 | 130872901 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.160 | 9 | 130872903 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.120 | 6 | 138018697 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.200 | 6 | 140848688 | intron variant | A/G | snv | 8.5E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.120 | 4 | 141788570 | intergenic variant | T/C | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 |