| 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 | 0.944 | 8 | 2006 | 2020 | |||||||
|
0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 |
|
0.800 | 1.000 | 4 | 2006 | 2010 | |||||||
|
0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2006 | 2007 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.850 | 1.000 | 2 | 2006 | 2020 | ||||||||
|
0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 |
|
0.810 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.850 | 1.000 | 2 | 2006 | 2013 | |||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.860 | 0.800 | 2 | 2005 | 2016 | |||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.800 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.851 | 0.200 | 1 | 172893094 | intron variant | A/G | snv | 0.32 |
|
0.800 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 |
|
0.860 | 1.000 | 1 | 2006 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 172893799 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.240 | 1 | 67222666 | intron variant | T/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 1 | 67264945 | downstream gene variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 1 | 191590226 | intergenic variant | A/T | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2016 | |||||||||
|
1.000 | 0.040 | 1 | 67059360 | regulatory region variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 1 | 67124778 | intron variant | T/C | snv | 0.77 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 1 | 67135449 | intron variant | G/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.080 | 1 | 67157615 | intron variant | G/A;T | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 |
|
0.710 | 1.000 | 1 | 2006 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 160909123 | intergenic variant | C/A | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 1 | 155260340 | synonymous variant | C/T | snv | 0.34 | 0.36 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 1 | 67219915 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.827 | 0.200 | 1 | 200966738 | downstream gene variant | T/C | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 1 | 67233571 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 |