| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.800 | 0.923 | 1 | 2004 | 2017 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.730 | 1.000 | 1 | 2011 | 2016 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 |
|
0.720 | 0.667 | 1 | 2010 | 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 | ||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 1.000 | 3 | 2007 | 2020 | |||||||
|
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 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.820 | 1.000 | 1 | 2009 | 2020 | ||||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 |
|
0.730 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.695 | 0.360 | 6 | 90267049 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.360 | 17 | 39883866 | intergenic variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 |
|
0.800 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.820 | 1.000 | 1 | 2010 | 2017 | |||||||||
|
0.716 | 0.240 | 9 | 4981866 | upstream gene variant | G/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.280 | 3 | 49534707 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.240 | 2 | 240624322 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.280 | 19 | 48703728 | missense variant | G/A | snv | 0.40 | 0.47 |
|
0.710 | 1.000 | 1 | 2012 | 2015 | |||||||
|
0.716 | 0.240 | 5 | 40487168 | intron variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.240 | 5 | 56148856 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.810 | 1.000 | 3 | 2009 | 2012 |