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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.923 | 39 | 2002 | 2019 | |||||
|
2 | 2 | 201272639 | frameshift variant | -/C | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 0.925 | 0.040 | 4 | 87975555 | non coding transcript exon variant | -/G | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 5 | 76715788 | intron variant | -/GGCCGCGGGAAGC;GGCCGCGGGAAGCGGCCGCGGGAAGC | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
10 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.040 | 17 | 7673821 | frameshift variant | -/TCCCA | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.040 | 10 | 87931195 | intron variant | -/TCTTA | delins | 0.030 | 1.000 | 3 | 2014 | 2016 | |||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.020 | 1.000 | 2 | 2013 | 2019 | |||||
|
2 | 17 | 7668169 | intron variant | -/TGGCCG | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
5 | 0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 17 | 43057122 | frameshift variant | A/- | del | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.060 | 1.000 | 6 | 2002 | 2017 | |||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.050 | 0.600 | 5 | 2011 | 2017 | ||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.040 | 1.000 | 4 | 2015 | 2019 | ||||
|
10 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 0.030 | 0.333 | 3 | 2008 | 2019 | |||
|
3 | 1.000 | 0.040 | 17 | 72124410 | 3 prime UTR variant | A/C | snv | 0.41 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 20 | 46016407 | 3 prime UTR variant | A/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
12 | 0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 17 | 49277423 | intron variant | A/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 4 | 86701433 | missense variant | A/C | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
10 | 0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 16 | 4861238 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 18223142 | 3 prime UTR variant | A/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2017 | 2017 |