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 | 4 | 38334202 | intergenic variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 16 | 28479196 | intron variant | T/C | snv | 0.32 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 8 | 125527809 | intron variant | G/A | snv | 0.48 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
19 | 0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.160 | 21 | 15432901 | intron variant | T/C | snv | 0.33 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.160 | 10 | 34998722 | regulatory region variant | T/G | snv | 0.31 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 5 | 173910850 | intron variant | T/G | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | 22 | 21574352 | intron variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 5 | 40414965 | upstream gene variant | C/T | snv | 0.58 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 197758512 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 1 | 67187327 | intron variant | G/A | snv | 0.29 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 6 | 166957622 | upstream gene variant | T/C | snv | 0.58 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.200 | 1 | 160882256 | non coding transcript exon variant | T/C | snv | 0.65 | 0.58 | 0.800 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 5 | 96908845 | intron variant | C/T | snv | 0.62 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 19 | 48711017 | downstream gene variant | G/A | snv | 0.38 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 21 | 33424579 | intron variant | A/G | snv | 0.45 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 21 | 38919816 | intron variant | T/C | snv | 0.50 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.280 | 21 | 44195140 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 1 | 67205233 | intron variant | G/A | snv | 0.37 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 5 | 132067045 | downstream gene variant | C/T | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 6 | 31174468 | intron variant | C/A;T | snv | 0.68 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.240 | 5 | 173852839 | intergenic variant | C/T | snv | 0.59 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 2 | 233271764 | intron variant | A/G | snv | 0.42 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 119908567 | downstream gene variant | T/C | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 |