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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 21 | 36461009 | synonymous variant | C/A;T | snv | 4.0E-06; 0.16 | 0.810 | 1.000 | 2 | 2009 | 2015 | ||||
|
5 | 0.925 | 0.120 | 5 | 177367190 | intron variant | G/A | snv | 0.34 | 0.740 | 1.000 | 5 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 21570274 | intron variant | C/T | snv | 0.16 | 0.14 | 0.720 | 1.000 | 3 | 2015 | 2019 | |||
|
3 | 0.925 | 0.120 | 21 | 36462343 | intron variant | A/G | snv | 0.31 | 0.710 | 1.000 | 2 | 2009 | 2015 | ||||
|
1 | 1.000 | 0.120 | 21 | 36462941 | intron variant | CA/- | delins | 6.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 21 | 36460323 | non coding transcript exon variant | G/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 122227252 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.060 | 1.000 | 6 | 2006 | 2019 | |||
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.060 | 1.000 | 6 | 2011 | 2019 | ||||
|
8 | 0.790 | 0.240 | 3 | 122188481 | intron variant | A/G | snv | 0.62 | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||
|
3 | 0.925 | 0.120 | 7 | 30897563 | intron variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2017 | |||||
|
4 | 0.882 | 0.120 | 5 | 177371305 | intron variant | G/A | snv | 0.24 | 0.21 | 0.030 | 1.000 | 3 | 2012 | 2017 | |||
|
3 | 0.925 | 0.120 | 13 | 42180386 | intron variant | T/C | snv | 0.34 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.120 | 3 | 122183002 | upstream gene variant | G/A | snv | 0.61 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.030 | 0.333 | 3 | 2016 | 2019 | |||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.030 | 0.333 | 3 | 2016 | 2019 | |||
|
3 | 0.925 | 0.120 | 7 | 30875863 | intron variant | G/A | snv | 7.2E-02 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 0.925 | 0.120 | 7 | 142912681 | missense variant | A/C | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
6 | 0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 7 | 93426338 | 3 prime UTR variant | G/A | snv | 0.15 | 0.11 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
6 | 0.827 | 0.280 | 10 | 67875446 | downstream gene variant | T/A | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.200 | 2 | 70959974 | missense variant | G/A | snv | 3.0E-02 | 2.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 |