Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.944 | 8 | 2006 | 2020 | |||
|
3 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.800 | 1.000 | 4 | 2006 | 2010 | |||
|
1 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 3 | 2006 | 2007 | ||||
|
2 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.850 | 1.000 | 2 | 2006 | 2020 | ||||
|
1 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.810 | 1.000 | 2 | 2007 | 2012 | ||||
|
4 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.850 | 1.000 | 2 | 2006 | 2013 | |||||
|
13 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.860 | 0.800 | 2 | 2005 | 2016 | |||
|
6 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.800 | 1.000 | 2 | 2008 | 2015 | ||||
|
4 | 0.851 | 0.200 | 1 | 172893094 | intron variant | A/G | snv | 0.32 | 0.800 | 1.000 | 2 | 2008 | 2012 | ||||
|
1 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.860 | 1.000 | 1 | 2006 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 172893799 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 0.827 | 0.240 | 1 | 67222666 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 1 | 67264945 | downstream gene variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 1 | 191590226 | intergenic variant | A/T | snv | 0.82 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.040 | 1 | 67059360 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 1 | 67124778 | intron variant | T/C | snv | 0.77 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 67135449 | intron variant | G/T | snv | 0.28 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 0.882 | 0.080 | 1 | 67157615 | intron variant | G/A;T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.710 | 1.000 | 1 | 2006 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 160909123 | intergenic variant | C/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 155260340 | synonymous variant | C/T | snv | 0.34 | 0.36 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 1 | 67219915 | intron variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.827 | 0.200 | 1 | 200966738 | downstream gene variant | T/C | snv | 0.24 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 67233571 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 |