| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 |
|
0.030 | 0.667 | 3 | 2016 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 120980540 | intron variant | G/A | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.160 | 6 | 52187159 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 19 | 51623777 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 15 | 78813008 | intron variant | C/T | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 1 | 88159953 | intron variant | A/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 7 | 135816721 | intron variant | C/T | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 22 | 40635351 | intron variant | A/- | delins | 0.82 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.040 | 9 | 135637876 | intron variant | G/C | snv | 0.36 |
|
0.810 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 161673254 | intron variant | A/G;T | snv | 0.20 | 0.43 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.716 | 0.480 | 2 | 113130529 | intron variant | ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC | delins |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.160 | 13 | 42581032 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 7 | 37706967 | intron variant | C/T | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 7 | 24338421 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 3 | 12881698 | intron variant | C/A | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.320 | X | 12906578 | intron variant | C/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 19 | 6887725 | intron variant | G/A | snv | 8.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 19 | 51628480 | intron variant | A/G | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |