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 | 0.040 | 10 | 99861014 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 3 | 54442613 | intron variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 54387228 | intron variant | T/C | snv | 0.86 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 5226665 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 9 | 104782419 | 3 prime UTR variant | C/T | snv | 0.85 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 19 | 34377778 | missense variant | G/A | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 19 | 6919742 | missense variant | A/G;T | snv | 0.77 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 63719914 | missense variant | T/A;C | snv | 0.81 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 8 | 41694003 | frameshift variant | TGGAACTTCCGGCGCCGGGG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 15 | 45253280 | missense variant | C/T | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 4 | 153703650 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.120 | 9 | 135561895 | missense variant | A/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 4 | 55089065 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 19 | 6919613 | missense variant | A/C | snv | 0.77 | 0.73 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | X | 78118074 | missense variant | C/T | snv | 1.1E-05 | 9.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 3 | 57104391 | missense variant | G/A | snv | 0.62 | 0.64 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 10 | 69340157 | intron variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 7 | 100629298 | missense variant | T/C | snv | 8.4E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.120 | 20 | 3271278 | intron variant | A/C | snv | 0.19 | 0.040 | 1.000 | 4 | 2013 | 2020 | ||||
|
3 | 0.925 | 0.120 | 6 | 44233216 | intron variant | A/G | snv | 0.36 | 0.030 | 0.333 | 3 | 2015 | 2017 | ||||
|
3 | 1.000 | 0.040 | 14 | 100834675 | non coding transcript exon variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.240 | 10 | 63341311 | intron variant | G/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.160 | 8 | 127736777 | intron variant | G/T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 11 | 18332808 | non coding transcript exon variant | T/A | snv | 8.7E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.200 | MT | 15257 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |