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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 39955101 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.160 | 17 | 39910014 | intron variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2011 | 2019 | |||||
|
2 | 1.000 | 0.080 | 2 | 102340888 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102263004 | regulatory region variant | C/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102351896 | missense variant | C/T | snv | 0.34 | 0.46 | 0.710 | 1.000 | 1 | 2010 | 2020 | |||
|
2 | 0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 | 0.810 | 1.000 | 1 | 2011 | 2014 | ||||
|
1 | 0.925 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 2 | 102351902 | missense variant | T/C;G | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 2 | 41801493 | intergenic variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 5 | 111128310 | 3 prime UTR variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.851 | 0.240 | 17 | 39781794 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 8930055 | intergenic variant | G/A | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 17 | 39877024 | 3 prime UTR variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 0.710 | 1.000 | 1 | 2011 | 2013 | |||
|
1 | 1.000 | 0.080 | 19 | 50856840 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 1 | 202086810 | intergenic variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
5 | 0.851 | 0.280 | 6 | 90216893 | intron variant | C/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
3 | 0.776 | 0.280 | 10 | 62678726 | downstream gene variant | G/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 158962765 | intron variant | C/T | snv | 0.92 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 25869205 | downstream gene variant | A/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 25875474 | upstream gene variant | T/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 0.925 | 0.080 | 15 | 60777789 | intron variant | C/T | snv | 0.23 | 0.820 | 1.000 | 3 | 2010 | 2019 |