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 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 113105519 | upstream gene variant | -/CCTATATCCT | ins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.040 | 1 | 234605171 | 3 prime UTR variant | -/GTTACAATA;GTTATAATA | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.080 | 22 | 40635351 | intron variant | A/- | delins | 0.82 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.800 | 1.000 | 3 | 2011 | 2016 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.030 | 1.000 | 3 | 2011 | 2015 | |||
|
7 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 10 | 103927874 | intergenic variant | A/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 8 | 75012585 | intron variant | A/C | snv | 0.33 | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.080 | 3 | 186833922 | intergenic variant | A/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 19 | 18896591 | 5 prime UTR variant | A/C | snv | 2.1E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 31364462 | upstream gene variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 19 | 15897578 | missense variant | A/C | snv | 0.16 | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 6 | 25779508 | 3 prime UTR variant | A/C | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 20082881 | intron variant | A/C | snv | 0.55 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
6 | 1.000 | 0.040 | 15 | 74833304 | downstream gene variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 14 | 53956335 | splice region variant | A/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 6 | 169217631 | splice region variant | A/C | snv | 0.22 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 27747464 | intergenic variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.040 | 6 | 71484004 | intergenic variant | A/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 0.830 | 1.000 | 5 | 2007 | 2012 | |||||
|
2 | 0.925 | 0.040 | 10 | 89245129 | intron variant | A/C;G | snv | 0.710 | 1.000 | 2 | 2011 | 2013 |