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 | ||||
|
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 | |||
|
7 | 0.807 | 0.240 | 6 | 32445274 | downstream gene variant | A/G | snv | 0.90 | 0.890 | 1.000 | 12 | 2007 | 2018 | ||||
|
24 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 0.100 | 0.909 | 11 | 2007 | 2018 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.900 | 10 | 2005 | 2018 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.900 | 10 | 2005 | 2018 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.770 | 1.000 | 8 | 2009 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.070 | 0.857 | 7 | 2006 | 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 | |||||
|
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 | 1 | 116558335 | intron variant | A/G | snv | 0.28 | 0.810 | 1.000 | 5 | 2009 | 2018 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.050 | 0.600 | 5 | 2004 | 2015 | ||||
|
4 | 0.882 | 0.120 | 6 | 29666226 | missense variant | G/C | snv | 0.22 | 0.19 | 0.050 | 1.000 | 5 | 2002 | 2013 | |||
|
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 | ||||
|
1 | 1.000 | 0.080 | 12 | 57739473 | intron variant | G/A;T | snv | 0.820 | 1.000 | 4 | 2009 | 2018 | |||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.040 | 0.750 | 4 | 2010 | 2014 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.040 | 0.750 | 4 | 2006 | 2019 | |||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.040 | 1.000 | 4 | 2010 | 2015 | |||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.730 | 1.000 | 4 | 2009 | 2020 | |||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.040 | 0.250 | 4 | 2011 | 2013 | ||||
|
8 | 0.790 | 0.400 | 20 | 54174979 | upstream gene variant | C/T | snv | 0.47 | 0.820 | 1.000 | 4 | 2011 | 2016 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.040 | 0.750 | 4 | 2011 | 2019 |