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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2005 | 2017 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 0.925 | 0.040 | 9 | 22124631 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.200 | 9 | 22124473 | intron variant | C/T | snv | 0.47 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.040 | 12 | 124822507 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 7 | 106872566 | synonymous variant | C/T | snv | 0.32 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 12 | 21250045 | intergenic variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.240 | 1 | 19979653 | 5 prime UTR variant | G/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.080 | 15 | 90528542 | upstream gene variant | T/C | snv | 0.88 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 15 | 44000939 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 7 | 100243731 | intron variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 14 | 84338144 | intergenic variant | C/T | snv | 9.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.200 | 10 | 94780595 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 3 | 15633655 | intron variant | T/G | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.716 | 0.360 | 21 | 31659813 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.080 | 16 | 56959249 | upstream gene variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
2 | 0.925 | 0.040 | 11 | 26141193 | intergenic variant | G/A | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 |