| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
0.800 | 0.846 | 1 | 2002 | 2018 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.800 | 0.923 | 1 | 2004 | 2017 | ||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 1.000 | 3 | 2007 | 2020 | |||||||
|
0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 |
|
0.840 | 0.889 | 5 | 2008 | 2017 | ||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.820 | 1.000 | 5 | 2008 | 2017 | |||||||
|
0.827 | 0.200 | 6 | 32463370 | intron variant | A/G;T | snv |
|
0.810 | 1.000 | 2 | 2008 | 2018 | |||||||||
|
0.827 | 0.120 | 9 | 136369439 | intron variant | C/G | snv | 0.38 |
|
0.710 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 |
|
0.730 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.827 | 0.120 | 1 | 19845367 | TF binding site variant | G/A | snv | 0.52 |
|
0.810 | 1.000 | 8 | 2009 | 2017 | ||||||||
|
0.827 | 0.120 | 13 | 26957130 | regulatory region variant | T/C | snv | 0.16 |
|
0.820 | 1.000 | 6 | 2009 | 2017 | ||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.850 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
0.827 | 0.120 | 1 | 19816373 | intron variant | C/T | snv | 0.36 |
|
0.800 | 1.000 | 4 | 2009 | 2016 | ||||||||
|
0.925 | 0.120 | 20 | 44436388 | non coding transcript exon variant | A/C | snv | 0.62 |
|
0.810 | 1.000 | 4 | 2009 | 2017 | ||||||||
|
0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 |
|
0.800 | 1.000 | 4 | 2009 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 |
|
0.810 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.810 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
0.800 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.925 | 0.120 | 12 | 68110812 | intron variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.040 | 7 | 107862996 | intergenic variant | A/C | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.776 | 0.080 | 10 | 99530544 | intron variant | T/C | snv | 0.56 |
|
0.800 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.882 | 0.160 | 1 | 22371954 | intergenic variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.820 | 1.000 | 1 | 2009 | 2020 | ||||||||
|
0.882 | 0.080 | 9 | 5213687 | intergenic variant | T/C | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 107812658 | downstream gene variant | G/A;T | snv |
|
0.810 | 1.000 | 1 | 2009 | 2018 |