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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 10 | 73647532 | frameshift variant | -/A | ins | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 150947849 | frameshift variant | -/TTGG | ins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 12 | 56712154 | downstream gene variant | A/C | snv | 0.80 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 11642399 | upstream gene variant | A/C | snv | 0.11 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 1 | 237784169 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 6 | 122070990 | intergenic variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 20 | 62473504 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
16 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.790 | 0.120 | 19 | 49154952 | missense variant | A/C | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 205748695 | intron variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 18 | 51182178 | intron variant | A/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 15 | 57632516 | missense variant | A/C;G | snv | 3.5E-03; 1.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 117559179 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.080 | 6 | 159897771 | intron variant | A/C;G | snv | 0.99 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 170669192 | non coding transcript exon variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 8 | 140730769 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 14 | 64214130 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
4 | 1.000 | 0.080 | 1 | 184054395 | missense variant | A/C;G;T | snv | 0.34; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 116558774 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 2 | 148035096 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 20 | 6591367 | regulatory region variant | A/C;T | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |