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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 0.773 | 3 | 2006 | 2020 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.850 | 1.000 | 1 | 2008 | 2017 | |||||||
|
1.000 | 0.080 | 19 | 33259408 | intergenic variant | G/A | snv | 0.14 |
|
0.820 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 |
|
0.820 | 1.000 | 1 | 2006 | 2017 | ||||||||
|
0.851 | 0.160 | 5 | 159399784 | intron variant | C/A;G | snv | 0.29 |
|
0.820 | 0.667 | 1 | 2012 | 2017 | ||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
0.851 | 0.240 | 10 | 79300560 | intron variant | C/A | snv | 0.27 |
|
0.810 | 1.000 | 1 | 2009 | 2017 | ||||||||
|
0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.925 | 0.040 | 2 | 218286495 | 5 prime UTR variant | A/C | snv | 0.61 |
|
0.810 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 22 | 30133642 | intron variant | C/A | snv | 0.54 |
|
0.810 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 |
|
0.810 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 68106295 | intron variant | G/A | snv | 0.32 |
|
0.810 | 1.000 | 1 | 2012 | 2020 | ||||||||
|
0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 |
|
0.810 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.882 | 0.120 | 14 | 88006251 | intron variant | C/T | snv | 0.18 |
|
0.810 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.925 | 0.120 | 16 | 28826194 | intron variant | T/C;G | snv | 0.38 |
|
0.810 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2008 | 2012 | |||||||||
|
0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 30439172 | synonymous variant | T/C | snv | 0.51 | 0.45 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 43579779 | intron variant | C/T | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
16 | 85977731 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||
|
11 | 58571651 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.040 | 10 | 35006503 | downstream gene variant | C/G | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |