| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.080 | 12 | 49086185 | upstream gene variant | A/C | snv | 0.50 |
|
0.710 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.925 | 0.040 | 12 | 48995537 | 3 prime UTR variant | A/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 18 | 55399097 | intron variant | A/C | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 11 | 79394755 | intron variant | A/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.040 | 12 | 130827204 | missense variant | A/C | snv | 1.4E-02 | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 7502943 | intron variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 2 | 149675023 | intron variant | A/C | snv | 4.2E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 2 | 184947213 | intergenic variant | A/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 12 | 17370820 | regulatory region variant | A/C | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.925 | 0.040 | 16 | 23622705 | intron variant | A/C;G | snv |
|
0.810 | 1.000 | 2 | 2007 | 2011 | |||||||||
|
0.851 | 0.040 | 16 | 89675088 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 12 | 48824388 | intron variant | A/C;G | snv | 4.7E-06; 0.58 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 11 | 61822009 | intron variant | A/C;G | snv |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 5 | 134570919 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 79356427 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.040 | 3 | 52584303 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 2 | 112496 | intergenic variant | A/C;T | snv |
|
0.710 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 15 | 42612706 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 20 | 14517750 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 3 | 85514696 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.080 | 11 | 79366149 | intron variant | A/G | snv | 0.15 |
|
0.820 | 1.000 | 5 | 2011 | 2018 |