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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.925 | 0.120 | 5 | 75719417 | upstream gene variant | T/G | snv | 0.42 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
20 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 2 | 25289569 | intron variant | T/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 649347 | intergenic variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 2 | 48582005 | missense variant | T/G | snv | 6.8E-05 | 1.2E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 11 | 31886440 | non coding transcript exon variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 651030 | regulatory region variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 2 | 651349 | intergenic variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
9 | 0.882 | 0.120 | 11 | 27645655 | intron variant | T/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 1.000 | 0.080 | 2 | 59075742 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
3 | 6 | 34877672 | 3 prime UTR variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 2 | 652542 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
3 | 19 | 33418804 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 4 | 2009 | 2014 | ||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 3 | 2008 | 2014 | ||||
|
12 | 1.000 | 0.080 | 18 | 60161902 | upstream gene variant | T/C | snv | 0.21 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||
|
4 | 14 | 79470621 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 2 | 142202362 | intergenic variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
4 | 1.000 | 0.080 | 11 | 8583046 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
5 | 0.925 | 0.160 | 2 | 24935139 | intergenic variant | T/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
7 | 0.882 | 0.120 | 6 | 20685255 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
3 | 14 | 62889535 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 2 | 647580 | intergenic variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 |