| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.360 | 10 | 99804058 | missense variant | G/A | snv | 0.19 | 0.19 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 7 | 99705371 | 3 prime UTR variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.080 | 10 | 99585609 | intergenic variant | C/T | snv | 0.15 |
|
0.810 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.851 | 0.200 | 1 | 99580690 | intron variant | T/G | snv | 0.35 |
|
0.710 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.827 | 0.160 | 4 | 99428512 | missense variant | C/G | snv | 8.5E-02; 4.9E-04 | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.050 | 0.800 | 5 | 2006 | 2016 | ||||||||
|
0.882 | 0.120 | 9 | 99153883 | 3 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.160 | 9 | 99149374 | 3 prime UTR variant | A/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 9 | 99147870 | intron variant | TCTTT/- | delins |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 9 | 99108020 | intron variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 9 | 99106996 | intron variant | G/A | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 9 | 99105256 | inframe insertion | GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG | delins |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.672 | 0.480 | 8 | 9903189 | non coding transcript exon variant | G/C | snv | 0.14 |
|
0.030 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.807 | 0.280 | 15 | 98934996 | synonymous variant | G/A | snv | 0.40 | 0.39 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 7 | 988812 | missense variant | C/T | snv | 0.21 | 0.17 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.120 | 9 | 98831947 | missense variant | G/A | snv | 1.2E-03 | 1.3E-03 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 9 | 98831929 | missense variant | C/T | snv | 2.7E-04 | 4.5E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 7 | 985219 | missense variant | G/A | snv | 6.8E-02 | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.080 | X | 9783434 | intron variant | T/C | snv | 0.50 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 97740403 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 97740400 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 9 | 97700127 | non coding transcript exon variant | T/C | snv | 3.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.320 | 1 | 97699535 | missense variant | T/C | snv | 8.5E-02 | 8.1E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.790 | 0.120 | 9 | 97687210 | missense variant | T/C;G | snv | 1.2E-05; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |