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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 7 | 100622306 | intron variant | G/A | snv | 0.88 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 1.000 | 0.040 | 7 | 100642568 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 101115169 | intron variant | A/G | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 101414449 | intergenic variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2014 | 2016 | |||||
|
1 | 1.000 | 0.040 | 2 | 101796654 | intron variant | T/C | snv | 0.28 | 0.710 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.040 | 14 | 101911437 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 10 | 102231624 | missense variant | G/A;C;T | snv | 0.62; 8.3E-06 | 0.060 | 0.833 | 6 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 102231690 | synonymous variant | C/T | snv | 4.1E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 10 | 102231987 | missense variant | C/G;T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.080 | 10 | 102238914 | intron variant | A/T | snv | 0.66 | 0.060 | 0.833 | 6 | 2011 | 2014 | ||||
|
3 | 0.882 | 0.040 | 10 | 102244438 | upstream gene variant | G/A | snv | 0.14 | 0.100 | 0.818 | 11 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 102245653 | 5 prime UTR variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.807 | 0.200 | 12 | 102431143 | intron variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 102831636 | 3 prime UTR variant | G/T | snv | 0.14 | 0.10 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 19 | 10284610 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 0.500 | 2 | 2003 | 2005 | |||
|
6 | 1.000 | 0.040 | 10 | 102856906 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 10 | 102866213 | intron variant | C/T | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 10 | 102925542 | intron variant | C/A | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.790 | 0.200 | 10 | 102959339 | intron variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 102983270 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.120 | 20 | 10306440 | 3 prime UTR variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 |