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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.090 | 0.889 | 9 | 2009 | 2017 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.870 | 0.778 | 9 | 2009 | 2017 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.760 | 0.857 | 7 | 2006 | 2019 | |||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.810 | 1.000 | 5 | 2010 | 2019 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.050 | 1.000 | 5 | 2002 | 2010 | ||||
|
5 | 0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 | 0.830 | 1.000 | 5 | 2010 | 2019 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.820 | 1.000 | 4 | 2010 | 2019 | ||||
|
6 | 0.807 | 0.160 | 3 | 58197909 | missense variant | G/A;C | snv | 4.8E-02; 4.0E-06 | 0.710 | 1.000 | 4 | 2014 | 2019 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||
|
7 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
3 | 0.882 | 0.160 | 2 | 191038032 | intron variant | G/A | snv | 0.25 | 0.800 | 1.000 | 3 | 2010 | 2019 | ||||
|
14 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
5 | 0.827 | 0.120 | 2 | 191057148 | intron variant | C/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 173243134 | intergenic variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
7 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
|
3 | 0.882 | 0.080 | 7 | 129055929 | non coding transcript exon variant | C/A | snv | 9.0E-02 | 0.810 | 1.000 | 2 | 2013 | 2020 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 173363490 | non coding transcript exon variant | A/C | snv | 0.79 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
13 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 0.020 | 1.000 | 2 | 2009 | 2010 | |||
|
1 | 1.000 | 0.040 | 1 | 67348757 | intron variant | T/C | snv | 0.61 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
3 | 0.882 | 0.120 | 17 | 39965740 | missense variant | G/A | snv | 0.46 | 0.41 | 0.710 | 1.000 | 2 | 2017 | 2018 | |||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.020 | 0.500 | 2 | 2011 | 2016 | ||||
|
4 | 0.851 | 0.200 | 6 | 32222629 | synonymous variant | A/G | snv | 0.38 | 0.39 | 0.800 | 1.000 | 2 | 2010 | 2011 |