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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 16 | 30931304 | intron variant | G/A | snv | 0.53 | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||
|
6 | 0.807 | 0.120 | 5 | 159402519 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2016 | |||||
|
1 | 1.000 | 0.040 | 14 | 35212966 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||
|
2 | 0.925 | 0.120 | 5 | 159290781 | downstream gene variant | G/A | snv | 0.27 | 0.800 | 1.000 | 2 | 2009 | 2015 | ||||
|
2 | 0.925 | 0.040 | 5 | 151087628 | 5 prime UTR variant | G/C;T | snv | 4.8E-02 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
6 | 0.807 | 0.160 | 6 | 159085568 | intron variant | C/T | snv | 0.75 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
3 | 0.882 | 0.200 | 5 | 159332892 | non coding transcript exon variant | A/G | snv | 0.52 | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 37346633 | intron variant | C/A | snv | 0.60 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
4 | 0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||
|
4 | 0.851 | 0.280 | 6 | 31344549 | intron variant | T/G | snv | 8.8E-02 | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||
|
2 | 0.925 | 0.080 | 5 | 159323761 | intron variant | C/G;T | snv | 0.26 | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||
|
6 | 0.807 | 0.120 | 16 | 11271643 | intron variant | C/T | snv | 0.32 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
6 | 0.807 | 0.120 | 11 | 110091706 | intron variant | A/G | snv | 0.36 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 111334327 | intron variant | G/A | snv | 8.7E-02 | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||
|
3 | 0.882 | 0.120 | 2 | 60854407 | intron variant | C/T | snv | 0.35 | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||
|
6 | 0.807 | 0.120 | 1 | 24192153 | upstream gene variant | A/G | snv | 0.87 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
2 | 0.925 | 0.040 | 19 | 10707416 | intron variant | G/A | snv | 0.57 | 0.59 | 0.800 | 1.000 | 2 | 2012 | 2015 | |||
|
1 | 1.000 | 0.040 | 19 | 52948038 | intron variant | T/C | snv | 0.42 | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||
|
3 | 1.000 | 0.040 | 6 | 577820 | intron variant | A/G | snv | 0.40 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.040 | 20 | 45352086 | upstream gene variant | T/C | snv | 0.79 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 20 | 49939692 | intron variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 108054739 | regulatory region variant | A/G | snv | 0.44 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 8208035 | intron variant | G/A | snv | 0.26 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 16 | 30993491 | splice region variant | T/C | snv | 0.39 | 0.38 | 0.800 | 1.000 | 1 | 2012 | 2012 |