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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 6 | 34182850 | intergenic variant | T/C | snv | 0.99 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 2 | 25262866 | intron variant | C/T | snv | 0.45 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 6 | 151808263 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.827 | 0.120 | 21 | 31663841 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.851 | 0.120 | 21 | 31659806 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
11 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.763 | 0.120 | 21 | 26051171 | missense variant | T/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 16 | 88972472 | intron variant | G/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 17 | 44352420 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.080 | 21 | 26051069 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 14 | 22875867 | missense variant | T/A;C | snv | 6.0E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 2 | 70212796 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 21 | 41460614 | downstream gene variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.851 | 0.160 | 19 | 44892962 | intron variant | C/T | snv | 0.24 | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 8 | 114496877 | intergenic variant | G/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.882 | 0.080 | 17 | 49213276 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.160 | 3 | 85555773 | intron variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 15 | 51215677 | intron variant | G/A | snv | 0.11 | 8.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 4 | 46941670 | intron variant | C/T | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.882 | 0.080 | 2 | 173019562 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.827 | 0.080 | 21 | 25897619 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.807 | 0.320 | 21 | 41426138 | 5 prime UTR variant | G/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 |