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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 6 | 41411577 | intergenic variant | G/A | snv | 0.81 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.807 | 0.280 | 13 | 42573535 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 109923844 | missense variant | T/C | snv | 0.38 | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 109914244 | intron variant | C/A;T | snv | 0.22 | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 109917151 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.120 | 5 | 139374887 | intron variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
4 | 0.925 | 0.160 | 4 | 184649399 | 5 prime UTR variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.040 | 1 | 190151895 | intron variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.708 | 0.440 | 8 | 6877901 | 5 prime UTR variant | C/G;T | snv | 0.79 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.040 | 11 | 102845217 | upstream gene variant | A/-;AA | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.120 | 4 | 184648647 | intron variant | G/T | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
33 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.040 | 0.750 | 4 | 2016 | 2019 | |||
|
15 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 0.020 | 0.500 | 2 | 2016 | 2019 | |||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 |