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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.040 | 1 | 161638578 | intergenic variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 1 | 116721168 | regulatory region variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.240 | 1 | 67336688 | intron variant | A/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.120 | 1 | 24964519 | missense variant | A/T | snv | 0.56 | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.240 | 1 | 173257056 | intergenic variant | T/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 161544759 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 1 | 116766208 | intron variant | T/A | snv | 0.17 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.240 | 1 | 67294457 | intergenic variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.870 | 0.778 | 9 | 2009 | 2017 | ||||
|
3 | 0.882 | 0.160 | 2 | 191038032 | intron variant | G/A | snv | 0.25 | 0.800 | 1.000 | 3 | 2010 | 2019 | ||||
|
14 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
5 | 0.827 | 0.120 | 2 | 191057148 | intron variant | C/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||
|
8 | 0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 2 | 11268891 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 2 | 213064562 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 219833404 | intergenic variant | A/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.827 | 0.160 | 2 | 85666618 | missense variant | G/A;C | snv | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.160 | 2 | 191068557 | 3 prime UTR variant | T/C | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.763 | 0.280 | 2 | 8812465 | missense variant | G/C | snv | 4.2E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 2 | 190669646 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 |