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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 7 | 26852821 | intron variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2012 | 2015 | ||||
|
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 | 0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 | 0.800 | 0.917 | 1 | 2006 | 2017 | |||
|
1 | 1.000 | 0.040 | 5 | 40393503 | intergenic variant | A/C;G | snv | 0.29 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 10 | 131373856 | intergenic variant | G/A;C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
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 | 1.000 | 0.040 | 10 | 119345799 | intron variant | A/G | snv | 0.22 | 0.700 | 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 | 13 | 20365097 | intergenic variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 16 | 50658453 | intergenic variant | G/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 10 | 99532633 | upstream gene variant | C/T | snv | 0.40 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv | 0.810 | 1.000 | 1 | 2014 | 2017 | |||||
|
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 | 11 | 57435536 | regulatory region variant | C/T | snv | 0.55 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 0.925 | 0.080 | 11 | 72822491 | missense variant | C/T | snv | 7.0E-03 | 2.3E-03 | 0.730 | 1.000 | 1 | 2014 | 2016 | |||
|
1 | 0.925 | 0.120 | 11 | 73152652 | intergenic variant | A/G | snv | 2.3E-03 | 0.810 | 1.000 | 1 | 2014 | 2014 | ||||
|
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 |