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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.900 | 0.909 | 22 | 2007 | 2018 | |||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.900 | 1.000 | 14 | 2007 | 2019 | ||||
|
7 | 0.807 | 0.240 | 6 | 32445274 | downstream gene variant | A/G | snv | 0.90 | 0.890 | 1.000 | 12 | 2007 | 2018 | ||||
|
9 | 0.776 | 0.360 | 12 | 6330843 | non coding transcript exon variant | T/C | snv | 0.36; 4.0E-06 | 0.38 | 0.880 | 1.000 | 12 | 2009 | 2019 | |||
|
3 | 0.882 | 0.160 | 10 | 6060049 | intron variant | C/T | snv | 0.11 | 0.850 | 1.000 | 7 | 2007 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 60993140 | intron variant | C/A;G | snv | 0.850 | 1.000 | 7 | 2009 | 2016 | |||||
|
4 | 0.851 | 0.240 | 12 | 57768956 | missense variant | A/G | snv | 0.38 | 0.33 | 0.840 | 0.800 | 5 | 2009 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 10293054 | intron variant | T/C | snv | 0.32 | 0.830 | 1.000 | 4 | 2008 | 2011 | ||||
|
3 | 0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv | 0.830 | 0.750 | 4 | 2010 | 2017 | |||||
|
3 | 0.882 | 0.200 | 1 | 116561593 | intron variant | A/G | snv | 0.19 | 0.820 | 1.000 | 6 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 57739473 | intron variant | G/A;T | snv | 0.820 | 1.000 | 4 | 2009 | 2018 | |||||
|
8 | 0.790 | 0.400 | 20 | 54174979 | upstream gene variant | C/T | snv | 0.47 | 0.820 | 1.000 | 4 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.080 | 17 | 59946914 | 3 prime UTR variant | A/G | snv | 0.33 | 0.820 | 1.000 | 3 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 122077921 | splice region variant | G/A | snv | 7.0E-02 | 0.820 | 1.000 | 3 | 2011 | 2018 | ||||
|
2 | 0.925 | 0.120 | 13 | 92679633 | intron variant | G/A | snv | 0.39 | 0.820 | 1.000 | 3 | 2009 | 2013 | ||||
|
22 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 0.820 | 1.000 | 2 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 116558335 | intron variant | A/G | snv | 0.28 | 0.810 | 1.000 | 5 | 2009 | 2018 | ||||
|
2 | 0.925 | 0.160 | 6 | 32368410 | intron variant | T/C | snv | 0.83 | 0.810 | 1.000 | 4 | 2007 | 2018 | ||||
|
2 | 0.925 | 0.120 | 19 | 6668961 | intron variant | C/G;T | snv | 0.810 | 1.000 | 3 | 2011 | 2013 | |||||
|
3 | 0.882 | 0.160 | 6 | 135418217 | intron variant | C/A | snv | 0.28 | 0.810 | 1.000 | 3 | 2011 | 2018 | ||||
|
2 | 1.000 | 0.080 | 6 | 137131771 | intergenic variant | A/G | snv | 0.20 | 0.810 | 1.000 | 3 | 2011 | 2019 | ||||
|
9 | 0.790 | 0.320 | 6 | 159044945 | 5 prime UTR variant | T/C | snv | 0.49 | 0.810 | 1.000 | 3 | 2011 | 2017 | ||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.810 | 1.000 | 3 | 2011 | 2018 | |||||
|
2 | 0.925 | 0.160 | 20 | 63778360 | intron variant | C/G;T | snv | 0.810 | 1.000 | 3 | 2011 | 2019 | |||||
|
4 | 0.925 | 0.160 | 5 | 56142753 | intron variant | C/A | snv | 0.20 | 0.810 | 1.000 | 3 | 2011 | 2016 |